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Article ; Online: Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome.

Seidahmed, Mohammed Zain / Maddirevula, Sateesh / Miqdad, Abeer M / Al Faifi, Abdullah / Al Samadi, Abdulmohsen / Alkuraya, Fowzan S

American journal of medical genetics. Part A

2020 Volume 185, Issue 3, Page(s) 945–948

Abstract: Pathogenic heterozygous variants in PIEZO2 typically cause distal arthrogryposis type 5 (DA5) and the closely related Gordon syndrome (GS). Only one case of PIEZO2-related Marden-Walker syndrome (MWS) has been reported to date. We report the phenotypic ... ...

Abstract	Pathogenic heterozygous variants in PIEZO2 typically cause distal arthrogryposis type 5 (DA5) and the closely related Gordon syndrome (GS). Only one case of PIEZO2-related Marden-Walker syndrome (MWS) has been reported to date. We report the phenotypic features of a Saudi female patient with features consistent with MWS in whom we identified a novel de novo likely pathogenic variant in PIEZO2. Our case lends support to the link between PIEZO2 and MWS.
MeSH term(s)	Abnormalities, Multiple/diagnostic imaging ; Abnormalities, Multiple/embryology ; Abnormalities, Multiple/genetics ; Adult ; Agenesis of Corpus Callosum/diagnostic imaging ; Agenesis of Corpus Callosum/genetics ; Amino Acid Sequence ; Amino Acid Substitution ; Arachnodactyly/diagnostic imaging ; Arachnodactyly/embryology ; Arachnodactyly/genetics ; Blepharophimosis/diagnostic imaging ; Blepharophimosis/embryology ; Blepharophimosis/genetics ; Child ; Clubfoot/diagnosis ; Clubfoot/embryology ; Clubfoot/genetics ; Connective Tissue Diseases/diagnostic imaging ; Connective Tissue Diseases/embryology ; Connective Tissue Diseases/genetics ; Consanguinity ; Contracture/diagnostic imaging ; Contracture/embryology ; Contracture/genetics ; Dandy-Walker Syndrome/diagnostic imaging ; Dandy-Walker Syndrome/embryology ; Dandy-Walker Syndrome/genetics ; Female ; Genetic Association Studies ; Humans ; Intellectual Disability/genetics ; Ion Channels/deficiency ; Ion Channels/genetics ; Male ; Pedigree ; Sequence Alignment ; Sequence Homology, Amino Acid ; Ultrasonography, Prenatal
Chemical Substances	Ion Channels ; PIEZO2 protein, human
Language	English
Publishing date	2020-12-27
Publishing country	United States
Document type	Case Reports ; Comparative Study ; Journal Article ; Review
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.62052
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Article ; Online: Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.

Seidahmed, Mohammed Zain / Al-Kindi, Adila / Alsaif, Hessa S / Miqdad, Abeer / Alabbad, Nasser / Alfifi, Abdallah / Abdelbasit, Omer Bashir / Alhussein, Khalid / Alsamadi, Abdulmohsen / Ibrahim, Niema / Al-Futaisi, Amna / Al-Maawali, Almundher / Alkuraya, Fowzan S

Human genetics

2020 Volume 139, Issue 4, Page(s) 513–519

Abstract: Arthrogryposis multiplex congenita (AMC) is an important birth defect with a significant genetic contribution. Many syndromic forms of AMC have been described, but remain unsolved at the molecular level. In this report, we describe a novel syndromic form ...

Abstract	Arthrogryposis multiplex congenita (AMC) is an important birth defect with a significant genetic contribution. Many syndromic forms of AMC have been described, but remain unsolved at the molecular level. In this report, we describe a novel syndromic form of AMC in two multiplex consanguineous families from Saudi Arabia and Oman. The phenotype is highly consistent, and comprises neurogenic arthrogryposis, microcephaly, brain malformation (absent corpus callosum), optic atrophy, limb fractures, profound global developmental delay, and early lethality. Whole-exome sequencing revealed a different homozygous truncating variant in SCYL2 in each of the two families. SCYL2 is a component of clathrin-coated vesicles, and deficiency of its mouse ortholog results in a severe neurological phenotype that largely recapitulates the phenotype observed in our patients. Our results suggest that severe neurogenic arthrogryposis with brain malformation is the human phenotypic consequence of SCYL2 loss of function mutations.
MeSH term(s)	Adult ; Arthrogryposis/diagnostic imaging ; Arthrogryposis/genetics ; Arthrogryposis/pathology ; Child, Preschool ; Female ; Genes, Recessive ; Humans ; Infant ; Infant, Newborn ; Loss of Function Mutation ; Male ; Pedigree ; Protein-Serine-Threonine Kinases/genetics ; Syndrome
Chemical Substances	Protein-Serine-Threonine Kinases (EC 2.7.11.1) ; SCYL2 protein, human (EC 2.7.11.1)
Language	English
Publishing date	2020-01-20
Publishing country	Germany
Document type	Case Reports ; Clinical Trial ; Journal Article ; Multicenter Study
ZDB-ID	223009-4
ISSN	1432-1203 ; 0340-6717
ISSN (online)	1432-1203
ISSN	0340-6717
DOI	10.1007/s00439-020-02117-7
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Article ; Online: Hereditary Hyperekplexia in Saudi Arabia.

Pediatric neurology

2022 Volume 134, Page(s) 78–82

Abstract: Background: Hyperekplexia is a rare disorder characterized by exaggerated startle responses to unexpected sensory stimuli, recurrent apneas, and stiffness. Only few studies have been published on this disorder in populations with high rates of ... ...

Abstract	Background: Hyperekplexia is a rare disorder characterized by exaggerated startle responses to unexpected sensory stimuli, recurrent apneas, and stiffness. Only few studies have been published on this disorder in populations with high rates of consanguinity. Methods: We retrospectively reviewed Saudi patients with genetically confirmed hereditary hyperekplexia using a standard questionnaire that was sent to nine major referral hospitals in Saudi Arabia. Results: A total of 22 Saudi patients (11 males, 11 females) from 20 unrelated families who had hereditary hyperekplexia were included. Based on molecular studies, they were classified into different subtypes: SLC6A5 variant (12 patients, 54.5%), GLRB variant (seven patients, 31.8%), and GLRA1 variant (three patients, 13.7%). All patients were homozygous for the respective causal variant. The combined carrier frequency of hereditary hyperekplexia for the encountered founder mutations in the Saudi population is 10.9 per 10,000, which translates to a minimum disease burden of 13 patients per 1,000,000. Conclusion: Our study provides comprehensive epidemiologic information, prevalence figures, and clinical characteristics of a large cohort of patients with hereditary hyperekplexia.
MeSH term(s)	Female ; Glycine Plasma Membrane Transport Proteins/genetics ; Humans ; Male ; Mutation ; Receptors, Glycine/genetics ; Reflex, Startle/genetics ; Retrospective Studies ; Saudi Arabia/epidemiology ; Stiff-Person Syndrome/epidemiology ; Stiff-Person Syndrome/genetics
Chemical Substances	GLRA1 protein, human ; GLRB protein, human ; Glycine Plasma Membrane Transport Proteins ; Receptors, Glycine ; SLC6A5 protein, human
Language	English
Publishing date	2022-06-24
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	639164-3
ISSN	1873-5150 ; 0887-8994
ISSN (online)	1873-5150
ISSN	0887-8994
DOI	10.1016/j.pediatrneurol.2022.06.015
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Article: Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia.

Alazami, Anas M / Seidahmed, Mohammed Zain / Alzahrani, Fatema / Mohammed, Adam O / Alkuraya, Fowzan S

Molecular genetics & genomic medicine

2013 Volume 2, Issue 2, Page(s) 103–106

Abstract: Cranioectodermal dysplasia (CED) is a very rare autosomal recessive disorder characterized by a recognizable craniofacial profile in addition to ectodermal manifestations involving the skin, hair, and teeth. Four genes are known to be mutated in this ... ...

Abstract	Cranioectodermal dysplasia (CED) is a very rare autosomal recessive disorder characterized by a recognizable craniofacial profile in addition to ectodermal manifestations involving the skin, hair, and teeth. Four genes are known to be mutated in this disorder, all involved in the ciliary intraflagellar transport confirming that CED is a ciliopathy. In a multiplex consanguineous family with typical CED features in addition to intellectual disability and severe cutis laxa, we used autozygosity-guided candidate gene analysis to identify a novel homozygous mutation in IFT122, and demonstrated impaired ciliogenesis in patient fibroblasts. This report on IFT122 broadens the phenotype of CED and expands its allelic heterogeneity.
Language	English
Publishing date	2013-12-10
Publishing country	United States
Document type	Journal Article
ZDB-ID	2734884-2
ISSN	2324-9269
ISSN	2324-9269
DOI	10.1002/mgg3.44
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Article ; Online: Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy.

Seidahmed, Mohammed Zain / Salih, Mustafa A / Abdelbasit, Omer Bashir / Alassiri, Ali H / Hussein, Khalid Al / Miqdad, Abeer / Samadi, Abdelmohsin / Rasheed, Abdallah Al / Alorainy, Ibrahim A / Shaheen, Ranad / Alkuraya, Fowzan S

American journal of medical genetics. Part A

2016 Volume 170, Issue 8, Page(s) 2219–2221

MeSH term(s)	Actins/genetics ; Brain/diagnostic imaging ; Fatal Outcome ; Female ; Genes, Recessive ; Humans ; Infant ; Infant, Newborn ; Male ; Mosaicism ; Mutation, Missense ; Myopathies, Nemaline/diagnostic imaging ; Myopathies, Nemaline/genetics ; Pedigree
Chemical Substances	Actins
Language	English
Publishing date	2016-05-30
Publishing country	United States
Document type	Case Reports ; Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.37768
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Article ; Online: Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.

Seidahmed, Mohammed Zain / Salih, Mustafa A / Abdulbasit, Omer B / Samadi, Abdulmohsen / Al Hussien, Khalid / Miqdad, Abeer M / Biary, Maha S / Alazami, Anas M / Alorainy, Ibrahim A / Kabiraj, Mohammad M / Shaheen, Ranad / Alkuraya, Fowzan S

BMC neurology

2016 Volume 16, Page(s) 105

Abstract: Background: Asparagine synthetase deficiency (OMIM# 615574) is a very rare newly described neurometabolic disorder characterized by congenital microcephaly and severe global developmental delay, associated with intractable seizures or hyperekplexia. ... ...

Abstract	Background: Asparagine synthetase deficiency (OMIM# 615574) is a very rare newly described neurometabolic disorder characterized by congenital microcephaly and severe global developmental delay, associated with intractable seizures or hyperekplexia. Brain MRI typically shows cerebral atrophy with simplified gyral pattern and delayed myelination. Only 12 cases have been described to date. The disease is caused by homozygous or compound heterozygous mutations in the ASNS gene on chromosome 7q21. Case presentation: Family 1 is a multiplex consanguineous family with five affected members, while Family 2 is simplex. One affected from each family was available for detailed phenotyping. Both patients (Patients 1 and 2) presented at birth with microcephaly and severe hyperekplexia, and were found to have gross brain malformation characterized by simplified gyral pattern, and hypoplastic cerebellum and pons. EEG showed no epileptiform discharge in Patient 2 but multifocal discharges in patient 1. Patient 2 is currently four years old with severe neurodevelopmental delay, quadriplegia and cortical blindness. Whole exome sequencing (WES) revealed a novel homozygous mutation in ASNS (NM_001178076.1) in each patient (c.970C > T:p.(Arg324) and c.944A > G:p.(Tyr315Cys)). Conclusion:* Our results expand the mutational spectrum of the recently described asparagine synthetase deficiency and show a remarkable clinical homogeneity among affected individuals, which should facilitate its recognition and molecular confirmation for pertinent and timely genetic counseling.
MeSH term(s)	Atrophy ; Brain Diseases/genetics ; Cerebellum/abnormalities ; Child, Preschool ; Developmental Disabilities/genetics ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Microcephaly/genetics ; Mutation ; Nervous System Malformations/genetics ; Stiff-Person Syndrome/genetics
Language	English
Publishing date	2016-07-15
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1471-2377
ISSN (online)	1471-2377
DOI	10.1186/s12883-016-0633-0
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Article ; Online: Report of a case of Raine syndrome and literature review.

Seidahmed, Mohammed Zain / Alazami, Anas M / Abdelbasit, Omer Bashir / Al Hussein, Khalid / Miqdad, Abeer M / Abu-Sa'da, Omar / Mustafa, Tareq / Bahjat, Sarah / Alkuraya, Fowzan S

American journal of medical genetics. Part A

2015 Volume 167A, Issue 10, Page(s) 2394–2398

Abstract: We report on a case of Raine syndrome with a mutation in FAM20C and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal atresia, wide fontanelle, exophthalmos, generalized osteosclerosis and intracranial calcification. ...

Abstract	We report on a case of Raine syndrome with a mutation in FAM20C and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal atresia, wide fontanelle, exophthalmos, generalized osteosclerosis and intracranial calcification. New features in our patient are cerebellar hypoplasia and pachygyria. We review the literature and conclude that the triad of hypoplastic nose, exophthalmos and generalized osteosclerosis and/or intracranial calcification is consistent in all molecularly confirmed cases.
MeSH term(s)	Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Calcinosis/pathology ; Casein Kinase I/genetics ; Consanguinity ; Exophthalmos/pathology ; Extracellular Matrix Proteins/genetics ; Humans ; Infant, Newborn ; Lissencephaly/pathology ; Male ; Mutation ; Osteosclerosis/pathology ; Pedigree
Chemical Substances	Extracellular Matrix Proteins ; Casein Kinase I (EC 2.7.11.1) ; FAM20C protein, human (EC 2.7.11.1)
Language	English
Publishing date	2015-05-14
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.37159
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Article ; Online: Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.

Shaheen, Ranad / Anazi, Shams / Ben-Omran, Tawfeg / Seidahmed, Mohammed Zain / Caddle, L Brianna / Palmer, Kristina / Ali, Rehab / Alshidi, Tarfa / Hagos, Samya / Goodwin, Leslie / Hashem, Mais / Wakil, Salma M / Abouelhoda, Mohamed / Colak, Dilek / Murray, Stephen A / Alkuraya, Fowzan S

American journal of human genetics

2016 Volume 98, Issue 4, Page(s) 643–652

Abstract: Nonsense-mediated decay (NMD) is an important process that is best known for degrading transcripts that contain premature stop codons (PTCs) to mitigate their potentially harmful consequences, although its regulatory role encompasses other classes of ... ...

Abstract	Nonsense-mediated decay (NMD) is an important process that is best known for degrading transcripts that contain premature stop codons (PTCs) to mitigate their potentially harmful consequences, although its regulatory role encompasses other classes of transcripts as well. Despite the critical role of NMD at the cellular level, our knowledge about the consequences of deficiency of its components at the organismal level is largely limited to model organisms. In this study, we report two consanguineous families in which a similar pattern of congenital anomalies was found to be most likely caused by homozygous loss-of-function mutations in SMG9, encoding an essential component of the SURF complex that generates phospho-UPF1, the single most important step in NMD. By knocking out Smg9 in mice via CRISPR/Cas9, we were able to recapitulate the major features of the SMG9-related multiple congenital anomaly syndrome we observed in humans. Surprisingly, human cells devoid of SMG9 do not appear to have reduction of PTC-containing transcripts but do display global transcriptional dysregulation. We conclude that SMG9 is required for normal human and murine development, most likely through a transcriptional regulatory role, the precise nature of which remains to be determined.
MeSH term(s)	Abnormalities, Multiple/genetics ; Adult ; Alleles ; Amino Acid Sequence ; Animals ; Case-Control Studies ; Child ; Child, Preschool ; Codon, Nonsense ; Female ; Gene Expression Profiling ; Gene Expression Regulation ; Humans ; Male ; Mice ; Molecular Sequence Data ; Mutation ; Nonsense Mediated mRNA Decay/genetics ; Pedigree ; Phosphoproteins/genetics ; Phosphorylation ; Polymorphism, Single Nucleotide ; RNA, Messenger ; Saudi Arabia
Chemical Substances	Codon, Nonsense ; Phosphoproteins ; RNA, Messenger ; SMG9 protein, human
Language	English
Publishing date	2016-03-24
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	219384-x
ISSN	1537-6605 ; 0002-9297
ISSN (online)	1537-6605
ISSN	0002-9297
DOI	10.1016/j.ajhg.2016.02.010
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Zs.A 107: Show issues

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Article ; Online: The morbid genome of ciliopathies: an update.

Shamseldin, Hanan E / Shaheen, Ranad / Ewida, Nour / Bubshait, Dalal K / Alkuraya, Hisham / Almardawi, Elham / Howaidi, Ali / Sabr, Yasser / Abdalla, Ebtesam M / Alfaifi, Abdullah Y / Alghamdi, Jameel Mohammed / Alsagheir, Afaf / Alfares, Ahmed / Morsy, Heba / Hussein, Maged H / Al-Muhaizea, Mohammad A / Shagrani, Mohammad / Al Sabban, Essam / Salih, Mustafa A /

Genetics in medicine : official journal of the American College of Medical Genetics

2020 Volume 22, Issue 6, Page(s) 1051–1060

Abstract: Purpose: Ciliopathies are highly heterogeneous clinical disorders of the primary cilium. We aim to characterize a large cohort of ciliopathies phenotypically and molecularly.: Methods: Detailed phenotypic and genomic analysis of patients with ... ...

Abstract	Purpose: Ciliopathies are highly heterogeneous clinical disorders of the primary cilium. We aim to characterize a large cohort of ciliopathies phenotypically and molecularly. Methods: Detailed phenotypic and genomic analysis of patients with ciliopathies, and functional characterization of novel candidate genes. Results: In this study, we describe 125 families with ciliopathies and show that deleterious variants in previously reported genes, including cryptic splicing variants, account for 87% of cases. Additionally, we further support a number of previously reported candidate genes (BBIP1, MAPKBP1, PDE6D, and WDPCP), and propose nine novel candidate genes (CCDC67, CCDC96, CCDC172, CEP295, FAM166B, LRRC34, TMEM17, TTC6, and TTC23), three of which (LRRC34, TTC6, and TTC23) are supported by functional assays that we performed on available patient-derived fibroblasts. From a phenotypic perspective, we expand the phenomenon of allelism that characterizes ciliopathies by describing novel associations including WDR19-related Stargardt disease and SCLT1- and CEP164-related Bardet-Biedl syndrome. Conclusion: In this cohort of phenotypically and molecularly characterized ciliopathies, we draw important lessons that inform the clinical management and the diagnostics of this class of disorders as well as their basic biology.
MeSH term(s)	Alleles ; Bardet-Biedl Syndrome/genetics ; Cilia/genetics ; Ciliopathies/genetics ; Humans ; Sodium Channels
Chemical Substances	SCLT1 protein, human ; Sodium Channels
Language	English
Publishing date	2020-02-14
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1038/s41436-020-0761-1
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Article: A case of methotrexate embryopathy with holoprosencephaly, expanding the phenotype.

Seidahmed, Mohammed Zain / Shaheed, Meeralebbae M / Abdulbasit, Omar B / Al Dohami, Hessa / Babiker, Mirghani / Abdullah, Mohammed A / Abomelha, Abdullah M

Birth defects research. Part A, Clinical and molecular teratology

2006 Volume 76, Issue 2, Page(s) 138–142

Abstract: Background: Methotrexate (MTX) embryopathy was described nearly 50 years ago, when this agent began to be used as a cancer treatment and abortifacient. In this report we describe a case with typical features of MTX syndrome together with new features to ...

Abstract	Background: Methotrexate (MTX) embryopathy was described nearly 50 years ago, when this agent began to be used as a cancer treatment and abortifacient. In this report we describe a case with typical features of MTX syndrome together with new features to expand the phenotype. Case: A 29-year-old woman decided to terminate her unwanted pregnancy because of ill health, as she had conceived soon after her last delivery by cesarian section. At 6 weeks of gestation, she took 2.5 mg of MTX 3 times a day for 7 days. The pregnancy termination failed, and the pregnancy was carried to term. A female infant was delivered who was growth retarded and had characteristic features of MTX embryopathy in addition to holoprosencephaly and other brain malformations, facial hypertrichosis, and long eyelashes--features that have not hitherto been described. Conclusions: We report the first case of holoprosencephaly in association with MTX exposure during the first 6 weeks of gestation. Physicians and the public should be aware of the effects of MTX on the fetus during pregnancy.
MeSH term(s)	Abnormalities, Drug-Induced ; Female ; Holoprosencephaly/chemically induced ; Holoprosencephaly/embryology ; Holoprosencephaly/physiopathology ; Humans ; Infant ; Methotrexate/adverse effects ; Phenotype
Chemical Substances	Methotrexate (YL5FZ2Y5U1)
Language	English
Publishing date	2006-02
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	2104792-3
ISSN	1542-0752 ; 1542-9733 ; 1542-975X
ISSN	1542-0752 ; 1542-9733 ; 1542-975X
DOI	10.1002/bdra.20199
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