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Article: Attitudes toward genetic counseling in the United Arab Emirates.

Al-Gazali, L I

2005 Volume 8, Issue 1, Page(s) 48–51

Abstract: Aims: To assess the level of understanding of genetic advice given in the Genetic Clinic and attitudes toward consanguineous marriages, and prenatal, abortion and preconception diagnoses.: Methods: One hundred couples underwent structured interviews, ...

Abstract	Aims: To assess the level of understanding of genetic advice given in the Genetic Clinic and attitudes toward consanguineous marriages, and prenatal, abortion and preconception diagnoses. Methods: One hundred couples underwent structured interviews, and various social and educational data, reason for referral and diagnosis and advice given were recorded. Three months later, the couples were asked open-ended questions about the perceived causation of the disease, recurrence risk, plans for births, and prenatal, abortion and preconception diagnoses. Results: Half of the couples acknowledged a genetic basis for their child's condition but only 10 remembered the risk given to them. There was a high correlation between educational level and remembering the risk, and the number of healthy children and future plans for further children. Almost half preferred consanguineous marriages and only 10% agreed with prenatal diagnosis and abortion, while 75% agreed with carrier screening and preconception diagnosis in affected families. Conclusion: Effective genetic counseling in this community requires an informed educated population and introduction of carrier screening and preconception diagnosis in affected families.
MeSH term(s)	Adult ; Attitude to Health ; Consanguinity ; Female ; Genetic Counseling ; Genetic Predisposition to Disease ; Health Care Surveys ; Humans ; Male ; Marriage ; Public Opinion ; United Arab Emirates
Language	English
Publishing date	2005
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	1437851-6
ISSN	1422-2833 ; 1422-2795
ISSN (online)	1422-2833
ISSN	1422-2795
DOI	10.1159/000083339
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Article ; Online: A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations.

Ben-Mahmoud, A / Ben-Salem, S / Al-Sorkhy, M / John, A / Ali, B R / Al-Gazali, L

Clinical genetics

2018 Volume 93, Issue 6, Page(s) 1148–1158

Abstract: Al-Gazali syndrome encompasses several clinical features including prenatal growth retardation ... features similar to Al-Gazali syndrome under spondylodysplastic EDS (spEDS). We report a disease-causing ... variant c.618C > G, p.(Cys206Trp) in 1 patient originally described as Al-Gazali syndrome and reported ...

Abstract	Al-Gazali syndrome encompasses several clinical features including prenatal growth retardation, large joints contractures with camptodactyly, bilateral talipes equinovarus, small mouth, anterior segment anomalies of the eyes, and early lethality. Recently, a baby with features very similar to Al-Gazali syndrome was found to have compound heterozygous variants in B3GALT6. This gene encodes Beta-1,3-galactosyltransferase 6 (β3GalT6), an essential component of the glycosaminoglycan synthesis pathway. Pathogenic variants in B3GALT6 have also been shown to cause Ehlers-Danlos syndrome spondylodysplastic type (spEDS-B3GALT6) and spondyloepimetaphyseal dysplasia with joint laxity type I (SEMD-JL1). In 2017, a new international classification of EDS included these 2 conditions together with the child reported to have features similar to Al-Gazali syndrome under spondylodysplastic EDS (spEDS). We report a disease-causing variant c.618C > G, p.(Cys206Trp) in 1 patient originally described as Al-Gazali syndrome and reported in 1999. We evaluated the involvement of the endoplasmic reticulum-associated protein degradation, in the pathogenesis of 13 B3GALT6 variants. Retention in endoplasmic reticulum was evident in 6 of them while the c.618C > G, p.(Cys206Trp) and the other 6 variants trafficked normally. Our findings confirm the involvement of B3GALT6 in the pathogenesis of Al-Gazali syndrome and suggest that Al-Gazali syndrome represents the severe end of the spectrum of the phenotypes caused by pathogenic variants in this gene.
MeSH term(s)	Abnormalities, Multiple/genetics ; Amino Acid Sequence ; Anterior Eye Segment/abnormalities ; Base Sequence ; Bone and Bones/abnormalities ; Child ; Decorin/metabolism ; Endoplasmic Reticulum/pathology ; Female ; Galactosyltransferases/chemistry ; Galactosyltransferases/genetics ; Glycosaminoglycans/metabolism ; HEK293 Cells ; HeLa Cells ; Homozygote ; Humans ; Male ; Mutation/genetics
Chemical Substances	DCN protein, human ; Decorin ; Glycosaminoglycans ; B3GALT6 protein, human (EC 2.4.1.-) ; Galactosyltransferases (EC 2.4.1.-)
Language	English
Publishing date	2018-03-15
Publishing country	Denmark
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.13236
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Article ; Online: Stüve-Wiedemann syndrome and related bent bone dysplasias.

Akawi, N A / Ali, B R / Al-Gazali, L

Clinical genetics

2012 Volume 82, Issue 1, Page(s) 12–21

Abstract: Stüve-Wiedemann syndrome (SWS) is a severe congenital skeletal dysplasia associated with life threatening dysautonomic manifestations. Newborns affected with this condition exhibit distinctive shortening and bowing of the long bones with reduced bone ... ...

Abstract	Stüve-Wiedemann syndrome (SWS) is a severe congenital skeletal dysplasia associated with life threatening dysautonomic manifestations. Newborns affected with this condition exhibit distinctive shortening and bowing of the long bones with reduced bone volume. The majority of affected newborns die early due to neuromuscular complications namely hyperthermia, apnea, and swallowing difficulties. In this review, we provide an overall picture on the clinical, including long-term management, molecular and cellular aspects of SWS and discuss briefly other related bent bone dysplasias.
MeSH term(s)	Bone Diseases, Developmental/genetics ; Bone Diseases, Developmental/metabolism ; Bone Diseases, Developmental/pathology ; Child, Preschool ; Deglutition Disorders/genetics ; Deglutition Disorders/metabolism ; Deglutition Disorders/pathology ; Exostoses, Multiple Hereditary/genetics ; Exostoses, Multiple Hereditary/metabolism ; Exostoses, Multiple Hereditary/pathology ; Humans ; Infant ; Infant, Newborn ; Mutation ; NFI Transcription Factors/genetics ; Osteochondrodysplasias/genetics ; Osteochondrodysplasias/metabolism ; Osteochondrodysplasias/pathology ; Primary Dysautonomias/genetics ; Primary Dysautonomias/metabolism ; Primary Dysautonomias/pathology ; Receptors, OSM-LIF/genetics
Chemical Substances	CTF-1 transcription factor ; NFI Transcription Factors ; Receptors, OSM-LIF
Language	English
Publishing date	2012-07
Publishing country	Denmark
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/j.1399-0004.2012.01852.x
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Article ; Online: Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.

Akawi, N A / Al-Gazali, L / Ali, B R

Clinical genetics

2012 Volume 82, Issue 2, Page(s) 147–156

Abstract: ... to chromosome 1 has been established using homozygosity mapping confirming recent findings by Tompson et al ...

Abstract	Fibrochondrogenesis is documented to be a neonatally lethal rare recessively inherited disorder characterized by short-limbed skeletal dysplasia. Here we report two patients from two unrelated consanguineous Emirati families who have unexpectedly survived till the ages of 3 and 6 years. These patients show additional symptoms which include developmental delay, profound sensory-neural deafness, severe myopia and progressive severe skeletal abnormalities. Linkage of fibrochondrogenesis in the Emirati families to chromosome 1 has been established using homozygosity mapping confirming recent findings by Tompson et al. in 2010. Screening of the COL11A1 gene revealed two null homozygous mutations [c.4084C>T (p.R1362X) and c.3708+437T>G] in the aforementioned two families. The c.4084C>T mutation is predicted to introduce a stop codon at position Arg1362, whereas the c.3708+437T>G mutation causes the activation of an intronic pseudoexon between exons 48 and 49. This resulted in the insertion of 50 nucleotides into the mRNA. The carriers of these mutations display ocular defects with normal hearing. In conclusion, our data shall improve the overall understanding of fibrochondrogenesis especially in surviving homozygous patients and, at least partly, explain the phenotypic variability associated with COL11A1 gene mutations.
MeSH term(s)	Child ; Child, Preschool ; Chondrodysplasia Punctata, Rhizomelic/diagnosis ; Chondrodysplasia Punctata, Rhizomelic/genetics ; Chromosome Mapping ; Collagen Type XI/genetics ; Consanguinity ; Family ; Female ; Homozygote ; Humans ; Infant ; Infant, Newborn ; Life Expectancy ; Male ; Mutation ; Pedigree ; Phenotype ; United Arab Emirates
Chemical Substances	COL11A1 protein, human ; Collagen Type XI
Language	English
Publishing date	2012-08
Publishing country	Denmark
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/j.1399-0004.2011.01734.x
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Article: Attitudes toward Genetic Counseling in the United Arab Emirates

Al-Gazali, L.I.

Public Health Genomics

2005 Volume 8, Issue 1, Page(s) 48–51

Abstract: Aims: To assess the level of understanding of genetic advice given in the Genetic Clinic and attitudes toward consanguineous marriages, and prenatal, abortion and preconception diagnoses. Methods: One hundred couples underwent structured interviews, and ... ...

Institution	Department of Pediatrics, Faculty of Medicine and Health Sciences,United Arab Emirates University, Al Ain, United Arab Emirates
Abstract	Aims: To assess the level of understanding of genetic advice given in the Genetic Clinic and attitudes toward consanguineous marriages, and prenatal, abortion and preconception diagnoses. Methods: One hundred couples underwent structured interviews, and various social and educational data, reason for referral and diagnosis and advice given were recorded. Three months later, the couples were asked open-ended questions about the perceived causation of the disease, recurrence risk, plans for births, and prenatal, abortion and preconception diagnoses. Results: Half of the couples acknowledged a genetic basis for their child’s condition but only 10 remembered the risk given to them. There was a high correlation between educational level and remembering the risk, and the number of healthy children and future plans for further children. Almost half preferred consanguineous marriages and only 10% agreed with prenatal diagnosis and abortion, while 75% agreed with carrier screening and preconception diagnosis in affected families. Conclusion: Effective genetic counseling in this community requires an informed educated population and introduction of carrier screening and preconception diagnosis in affected families.
Keywords	United Arab Emirates ; Consanguinity ; Genetic counseling ; Prenatal diagnosis
Language	English
Publishing date	2005-03-10
Publisher	S. Karger AG
Publishing place	Basel, Switzerland
Document type	Article
Note	Paper
ZDB-ID	2457023-0
ISBN	978-3-8055-7855-4 ; 978-3-318-01167-8 ; 3-8055-7855-5 ; 3-318-01167-3
ISSN	1662-8063 ; 1662-4246
ISSN (online)	1662-8063
ISSN	1662-4246
DOI	10.1159/000083339
Database	Karger publisher's database

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Article: Mental retardation, iris coloboma, optic atrophy and distinctive facial appearance in two sibs.

al-Gazali, L I

Clinical dysmorphology

1998 Volume 7, Issue 3, Page(s) 201–203

Abstract: We report an inbred Arab family from the United Arab Emirates with two children affected with mental retardation, iris coloboma, optic atrophy, nystagmus, and a distinctive facial appearance. This includes a long narrow face, downslanting palpebral ... ...

Abstract	We report an inbred Arab family from the United Arab Emirates with two children affected with mental retardation, iris coloboma, optic atrophy, nystagmus, and a distinctive facial appearance. This includes a long narrow face, downslanting palpebral fissures, a narrow nose with hypoplasia of the alae nasi, a small philtrum and a thin upper lip. We suggest that the combination of abnormalities in these children represents a previously undescribed autosomal recessive syndrome.
MeSH term(s)	Coloboma ; Consanguinity ; Facies ; Female ; Humans ; Infant, Newborn ; Intellectual Disability ; Iris/abnormalities ; Male ; Nuclear Family ; Optic Atrophy
Language	English
Publishing date	1998-07
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	1121482-x
ISSN	1473-5717 ; 0962-8827
ISSN (online)	1473-5717
ISSN	0962-8827
DOI	10.1097/00019605-199807000-00008
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Article: A genetic aetiological survey of severe childhood deafness in the United Arab Emirates.

Al-Gazali, L I

Journal of tropical pediatrics

1998 Volume 44, Issue 3, Page(s) 157–160

Abstract: ... Al-Ain). In each child a detailed history was obtained. This included a detailed family history ...

Abstract	The aim of this study was to provide a genetic aetiological survey of children attending classes for the deaf in the United Arab Emirates (UAE) in whom a known acquired cause for their deafness had been excluded. Four schools in four different Emirates participated in the study (Sharjha, Khor Fakan, Dubai and Al-Ain). In each child a detailed history was obtained. This included a detailed family history, the level of consanguinity between the parents, ethnic origin, and the age of onset and progression of the deafness. The deafness was classified into syndromic and non-syndromic groups. These were then subdivided into autosomal recessive (AR), autosomal dominant (AD), X-linked recessive (XR), and sporadic. A total of 74 children from 51 families were included in the study. Fourteen of these (19 per cent) had syndromic deafness and 60 (81 per cent) had non-syndromic deafness. Overall there was a high prevalence of AR deafness (92 per cent) with AD deafness constituting 7 per cent and sporadic deafness 1 per cent, and no X-linked cases. In the syndromic group AR syndromes comprised 57 per cent of cases, AD 43 per cent, with no X-linked or sporadic cases. In the non-syndromic group almost all cases were AR (98 per cent), with no AD or X-linked cases, and one sporadic case. The level of consanguinity in the study group was 74 per cent with a high number of complexly consanguineous families (34 per cent). Eighty-six per cent of the children had a positive family history, 54 per cent of those had affected siblings, 50 per cent of which had more than one affected sibling. However, almost all the parents were not aware that the deafness in their children was genetic in origin.
MeSH term(s)	Age of Onset ; Child ; Consanguinity ; Deafness/classification ; Deafness/epidemiology ; Deafness/genetics ; Disease Progression ; Female ; Genes, Dominant/genetics ; Genes, Recessive/genetics ; Genetic Linkage/genetics ; Health Surveys ; Humans ; Male ; Surveys and Questionnaires ; United Arab Emirates/epidemiology ; X Chromosome/genetics
Language	English
Publishing date	1998-06
Publishing country	England
Document type	Journal Article
ZDB-ID	800065-7
ISSN	0142-6338 ; 0449-3281
ISSN	0142-6338 ; 0449-3281
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Article ; Online: PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies.

Al-Amri, Ahmed H / Armstrong, Paul / Amici, Mascia / Ligneul, Clemence / Rouse, James / El-Asrag, Mohammed E / Pantiru, Andreea / Vancollie, Valerie E / Ng, Hannah W Y / Ogbeta, Jennifer A / Goodchild, Kirstie / Ellegood, Jacob / Lelliott, Christopher J / Mullins, Jonathan G L / Bretman, Amanda / Al-Ali, Ruslan / Beetz, Christian / Al-Gazali, Lihadh / Al Shamsi, Aisha /

Lerch, Jason P / Mellor, Jack R / Al Sayegh, Abeer / Ali, Manir / Inglehearn, Chris F / Clapcote, Steven J

Biological psychiatry

2022 Volume 92, Issue 4, Page(s) 323–334

Abstract: Background: The discovery of coding variants in genes that confer risk of intellectual disability (ID) is an important step toward understanding the pathophysiology of this common developmental disability.: Methods: Homozygosity mapping, whole-exome ... ...

Abstract	Background: The discovery of coding variants in genes that confer risk of intellectual disability (ID) is an important step toward understanding the pathophysiology of this common developmental disability. Methods: Homozygosity mapping, whole-exome sequencing, and cosegregation analyses were used to identify gene variants responsible for syndromic ID with autistic features in two independent consanguineous families from the Arabian Peninsula. For in vivo functional studies of the implicated gene's function in cognition, Drosophila melanogaster and mice with targeted interference of the orthologous gene were used. Behavioral, electrophysiological, and structural magnetic resonance imaging analyses were conducted for phenotypic testing. Results: Homozygous premature termination codons in PDZD8, encoding an endoplasmic reticulum-anchored lipid transfer protein, showed cosegregation with syndromic ID in both families. Drosophila melanogaster with knockdown of the PDZD8 ortholog exhibited impaired long-term courtship-based memory. Mice homozygous for a premature termination codon in Pdzd8 exhibited brain structural, hippocampal spatial memory, and synaptic plasticity deficits. Conclusions: These data demonstrate the involvement of homozygous loss-of-function mutations in PDZD8 in a neurodevelopmental cognitive disorder. Model organisms with manipulation of the orthologous gene replicate aspects of the human phenotype and suggest plausible pathophysiological mechanisms centered on disrupted brain development and synaptic function. These findings are thus consistent with accruing evidence that synaptic defects are a common denominator of ID and other neurodevelopmental conditions.
MeSH term(s)	Adaptor Proteins, Signal Transducing/genetics ; Animals ; Cognitive Dysfunction/genetics ; Consanguinity ; Drosophila ; Drosophila melanogaster ; Humans ; Intellectual Disability/genetics ; Mice ; Mutation/genetics
Chemical Substances	Adaptor Proteins, Signal Transducing ; PDZD8 protein, human
Language	English
Publishing date	2022-01-11
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	209434-4
ISSN	1873-2402 ; 0006-3223
ISSN (online)	1873-2402
ISSN	0006-3223
DOI	10.1016/j.biopsych.2021.12.017
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Article ; Online: Fibrochondrogenesis: prenatal diagnosis and outcome.

Bekdache, G N / Begam, M A / Chedid, F / Al-Gazali, L / Mirghani, H

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology

2013 Volume 33, Issue 7, Page(s) 663–668

Abstract: We studied 20 cases with fibrochondrogenesis (FCG) diagnosed prenatally. Four cases were diagnosed at our fetal unit, and 16 cases were identified through a review of literature (in English). The prenatal diagnosis of FCG was made in 4/20 (20%). Six (30%) ...

Abstract	We studied 20 cases with fibrochondrogenesis (FCG) diagnosed prenatally. Four cases were diagnosed at our fetal unit, and 16 cases were identified through a review of literature (in English). The prenatal diagnosis of FCG was made in 4/20 (20%). Six (30%) patients opted for termination of pregnancy (TOP). A total of 13 cases delivered at term. Four (30.8%) had a caesarean section. Four neonates (30.7%) were stillborn and seven (53.8%) neonates died within 3 months. Two infants survived beyond 3 years of age, but both had severe global developmental delay. A molecular study of the surviving children revealed two null homozygous mutations in COL11A1 [c.4084C > T (p.R1362X) and c.3708 + c.437T > G]. We concluded that the prenatal diagnosis of fibrochondrogenesis is feasible. Fibrochondrogenesis is usually a fatal disease and survivors suffer from severe physical and neurological impairment.
MeSH term(s)	Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/mortality ; Dwarfism/diagnosis ; Dwarfism/mortality ; Facies ; Female ; Humans ; Pregnancy ; Prenatal Diagnosis
Language	English
Publishing date	2013-10
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	604639-3
ISSN	1364-6893 ; 0144-3615
ISSN (online)	1364-6893
ISSN	0144-3615
DOI	10.3109/01443615.2013.817977
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Article: United Arab Emirates: communities and community genetics.

Al-Gazali, L I / Alwash, R / Abdulrazzaq, Y M

Community genetics

2005 Volume 8, Issue 3, Page(s) 186–196

Abstract: The UAE society is cosmopolitan, but the indigenous inhabitants are traditional with puritanical values despite their exposure to other vastly different cultures and habits. Marriages between consanguineous couples are still the norm rather than the ... ...

Abstract	The UAE society is cosmopolitan, but the indigenous inhabitants are traditional with puritanical values despite their exposure to other vastly different cultures and habits. Marriages between consanguineous couples are still the norm rather than the exception. As a result, there is a high frequency of genetic disorders, particularly autosomal recessive types. Despite the high frequency of genetic disorders like haemoglobinopathies and others characteristically found in this population, genetic services are inadequate. Screening for certain disorders like thalassaemia are not applied on a wide scale. Abortion is illegal, and therefore, prenatal diagnosis or preconception tests are not done. With the absence of a good national database, deficiency of genetic services and absence of preventative alternatives for carrier couples, genetic counsellors find it difficult to advice pragmatic solutions to issues relating to genetic diseases. This paper reviews common genetic problems in the UAE with special emphasis on available genetic services and support to families with children with inherited disorders. Existing barriers to the improvement of clinical services by prenatal counselling are also discussed.
MeSH term(s)	Arabs ; Congenital Abnormalities/genetics ; Cystic Fibrosis/genetics ; Deafness/genetics ; Ethnic Groups/genetics ; Genetic Diseases, Inborn/genetics ; Genetics, Population ; Geography ; Glucosephosphate Dehydrogenase Deficiency/genetics ; Humans ; Metabolism, Inborn Errors/genetics ; Neuromuscular Diseases/genetics ; Osteochondrodysplasias/genetics ; United Arab Emirates ; alpha-Thalassemia/genetics ; beta-Thalassemia/genetics
Language	English
Publishing date	2005
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	1437851-6
ISSN	1422-2833 ; 1422-2795
ISSN (online)	1422-2833
ISSN	1422-2795
DOI	10.1159/000086764
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