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  1. Article ; Online: Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.

    Balobaid, Ameera / Imtiaz, Faiqa / Ramzan, Khushnooda / Afzal, Sibtain / AlSayed, Moeenaldeen

    Genetic testing and molecular biomarkers

    2023  Volume 27, Issue 5, Page(s) 142–148

    Abstract: Background: ...

    Abstract Background:
    MeSH term(s) Infant, Newborn ; Pregnancy ; Female ; Humans ; Phenylalanine Hydroxylase/genetics ; Phenylalanine Hydroxylase/therapeutic use ; Saudi Arabia ; Genotype ; Phenotype ; Phenylketonurias/genetics ; Phenylketonurias/diagnosis ; Phenylketonurias/drug therapy ; Mutation/genetics ; Alleles
    Chemical Substances Phenylalanine Hydroxylase (EC 1.14.16.1)
    Language English
    Publishing date 2023-04-24
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2486664-7
    ISSN 1945-0257 ; 1945-0265
    ISSN (online) 1945-0257
    ISSN 1945-0265
    DOI 10.1089/gtmb.2022.0218
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Knowledge and attitudes regarding non-invasive prenatal testing among women in Saudi Arabia.

    Bawazeer, Shahad / AlSayed, Moeenaldeen / Kurdi, Wesam / Balobaid, Ameera

    Prenatal diagnosis

    2021  Volume 41, Issue 10, Page(s) 1343–1350

    Abstract: Objectives: To explore women's knowledge and attitudes regarding NIPT, its implications, the factors affecting their decision to undergo the test and actions taken following a positive result.: Methods: In this descriptive study, women who were ... ...

    Abstract Objectives: To explore women's knowledge and attitudes regarding NIPT, its implications, the factors affecting their decision to undergo the test and actions taken following a positive result.
    Methods: In this descriptive study, women who were offered NIPT through the foetal maternal clinic, were asked to complete an anonymous questionnaire about NIPT. The questionnaire consisted of 29 statements and covered four areas: demographics, knowledge, attitudes and decision-making.
    Results: A total of 150 women who were offered NIPT participated in this study. The results showed that generally women had poor knowledge of critical aspects of NIPT. This included the conditions tested for, the implications of the test and its limitations. Over 90% of women were in favour of NIPT and it being offered to all women of advanced maternal age while 66% of the tested women agreed to having confirmatory invasive testing in the case of a positive result.
    Conclusion: This study shows that the acceptance rate for NIPT is high despite incomplete understanding of the benefits and limitations of the test. The study findings support the need for education regarding this test through dedicated genetic counselling sessions in order to ensure that an informed decision can be made.
    MeSH term(s) Adolescent ; Adult ; Decision Making ; Female ; Health Knowledge, Attitudes, Practice ; Humans ; Middle Aged ; Noninvasive Prenatal Testing/methods ; Noninvasive Prenatal Testing/standards ; Saudi Arabia ; Surveys and Questionnaires
    Language English
    Publishing date 2021-06-27
    Publishing country England
    Document type Journal Article
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.5991
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Genetic counselors' scope of practice and challenges in genetic counseling services in Saudi Arabia.

    Balobaid, Ameera / Qari, Alya / Al-Zaidan, Hamad

    International journal of pediatrics & adolescent medicine

    2016  Volume 3, Issue 1, Page(s) 1–6

    Abstract: Genetic counseling is an evolving field in Saudi Arabia. In 2015, genetic counseling was recognized as a Master's program by the Saudi Commission for Health Specialties. Our genetic counselors combine their knowledge of genetics, counseling theory and ... ...

    Abstract Genetic counseling is an evolving field in Saudi Arabia. In 2015, genetic counseling was recognized as a Master's program by the Saudi Commission for Health Specialties. Our genetic counselors combine their knowledge of genetics, counseling theory and interpersonal communication to serve Saudi and non-Saudi patients affected with a range of genetic conditions and/or birth defects. Most patients are referred to the clinic from different clinics at King Faisal Specialist Hospital and Research Centre (KFSHRC) and outside of KFSHRC for various indications. Carrier testing and preventative reproduction options rank highly on the reasons for referral to our clinics. The Saudi population has unique customs and beliefs, such as consanguinity and the evil eye. Challenges that are routinely encountered in our genetic counseling clinics include, but are not limited to, preventative reproductive options and termination of pregnancy, manifesting carriers, stigmatization of women and approaches to complex molecular findings. Working with families from different backgrounds and beliefs undoubtedly requires professionals with a distinctive set of skills and a structured clinical setting. This review article presents the scope of genetic counseling practice and tackles some of the challenges faced in providing genetic counseling in Saudi Arabia.
    Language English
    Publishing date 2016-01-28
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 2832064-5
    ISSN 2352-6467
    ISSN 2352-6467
    DOI 10.1016/j.ijpam.2015.12.002
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Combined TSC1 and LMX1B mutations in a single patient.

    Khalifa, Ola / Al-Sakati, Nadia / Al-Mane, Khalid / Balobaid, Ameera / Al-Hassnan, Zuhair N

    Clinical dysmorphology

    2014  Volume 23, Issue 2, Page(s) 47–51

    Abstract: Tuberous sclerosis complex (TSC) and nail-patella syndrome (NPS) are autosomal dominant pleiotropic disorders with full penetrance that can both involve kidneys. TSC1 and NPS genes are located on chromosome 9q3. In a large family with the two disorders ... ...

    Abstract Tuberous sclerosis complex (TSC) and nail-patella syndrome (NPS) are autosomal dominant pleiotropic disorders with full penetrance that can both involve kidneys. TSC1 and NPS genes are located on chromosome 9q3. In a large family with the two disorders with two novel frameshift TSC1 and LMX1B mutations, we describe the phenotypes. The father, who has both disorders, has passed on TSC to three of his children, NPS to another three, and both TSC and NPS to one child. Patients carrying both mutations appear to show an additive phenotype and no obvious epistatic effects. The segregation of two dominant disorders in this family poses a challenge for genetic counseling and indicates the importance of a careful clinical and molecular evaluation for accurate risk assessment.
    MeSH term(s) Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Female ; Frameshift Mutation/genetics ; Humans ; Infant ; LIM-Homeodomain Proteins/genetics ; Male ; Transcription Factors/genetics ; Tuberous Sclerosis/genetics ; Tuberous Sclerosis/physiopathology ; Tumor Suppressor Proteins/genetics
    Chemical Substances LIM homeobox transcription factor 1 beta ; LIM-Homeodomain Proteins ; Transcription Factors ; Tumor Suppressor Proteins ; tuberous sclerosis complex 1 protein
    Language English
    Publishing date 2014-04
    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/MCD.0000000000000025
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: The development of genetic counseling services and training program in Saudi Arabia.

    Qari, Alya A / Balobaid, Ameera S / Rawashdeh, Rifaat R / Al-Sayed, Moeenaldeen D

    Journal of genetic counseling

    2013  Volume 22, Issue 6, Page(s) 835–838

    Abstract: In 2005 the first Saudi genetic counseling training program was established by the Department of Medical Genetics at King Faisal Specialist Hospital and Research Center (KFSH&RC) in the Kingdom of Saudi Arabia. The program has graduated five genetic ... ...

    Abstract In 2005 the first Saudi genetic counseling training program was established by the Department of Medical Genetics at King Faisal Specialist Hospital and Research Center (KFSH&RC) in the Kingdom of Saudi Arabia. The program has graduated five genetic counselors with high diploma-level degree. This brief report describes the development of the genetic counseling training program and the factors that led to its establishment. Special emphasis is made to unique cultural practices including consanguinity, religious influence, and termination of pregnancy. This report also describes the current status of the genetic counseling services offered by KFSH&RC and availability of genetic testing.
    MeSH term(s) Education, Professional/organization & administration ; Genetic Counseling/organization & administration ; Humans ; Saudi Arabia
    Language English
    Publishing date 2013-09-14
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1117799-8
    ISSN 1573-3599 ; 1059-7700
    ISSN (online) 1573-3599
    ISSN 1059-7700
    DOI 10.1007/s10897-013-9645-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.

    Balobaid, Ameera / Ben-Omran, Tawfeg / Ramzan, Khushnooda / Altassan, Ruqaiah / Almureikhi, Mariam / Musa, Sara / Al-Hashmi, Nadia / Al-Owain, Mohammed / Al-Zaidan, Hamad / Al-Hassnan, Zuhair / Imtiaz, Faiqa / Al-Sayed, Moeenaldeen

    American journal of medical genetics. Part A

    2018  Volume 176, Issue 12, Page(s) 2850–2857

    Abstract: Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) is a rare autosomal recessive condition caused by an impairment of glycosylphophatidylinositol biosynthesis. The cardinal features of HPMRS4 include; characteristic facial features, severe ... ...

    Abstract Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) is a rare autosomal recessive condition caused by an impairment of glycosylphophatidylinositol biosynthesis. The cardinal features of HPMRS4 include; characteristic facial features, severe intellectual disability and various neurologic abnormalities. We report here detailed clinical, biochemical, and molecular findings of 14 patients clinically suspected to have HPMRS4, from three Middle-Eastern Countries; Saudi Arabia, Qatar, and Oman. All patients in our series presented with the cardinal features pointing to HPMRS4 and with an elevated alkaline phosphatase level. Five patients had megalocornea, which have been reported recently in an Arab patient. Additionally, fracture, bilateral coxa valga, camptodactyly, truncal obesity, and hyperpigmented macules of the upper thigh, each was seen once and was not described before with HPMRS4. Additional clinical and radiological findings are described, supporting the novel clinical and radiological findings recently described in Egyptian patients. The utilization of homozygosity mapping coupled with PGAP3 sequencing and whole exome sequencing facilitated the mutation detection in these patients. These missense mutations include c.320C > T (p.S107 L), c.850C > T (p.H284Y), and c.851A > G (p.H284R) in the PGAP3 gene. We believe that the recurrent mutations identified in our cohort may represent founder mutations in big tribes from a certain geographical region of Saudi Arabia, Qatar, and Oman. Therefore, in case of a clinical suspicion of HPMRS4 in these populations, targeted genetic testing for the identified mutations should be performed first to expedite the genetic diagnosis.
    MeSH term(s) Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Alleles ; Child ; Child, Preschool ; Consanguinity ; Facies ; Female ; Genetic Association Studies/methods ; Genetic Predisposition to Disease ; Genotype ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Male ; Middle East ; Mutation ; Pedigree ; Phenotype ; Phosphorus Metabolism Disorders/diagnosis ; Phosphorus Metabolism Disorders/genetics ; Quantitative Trait Loci ; Receptors, Cell Surface/genetics ; Syndrome ; Whole Exome Sequencing
    Chemical Substances Receptors, Cell Surface ; PGAP3 protein, human (EC 3.1.1.-)
    Language English
    Publishing date 2018-10-22
    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.40627
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Lethal digenic mutations in the K

    Hasan, Sonia / Balobaid, Ameera / Grottesi, Alessandro / Dabbagh, Omar / Cenciarini, Marta / Rawashdeh, Rifaat / Al-Sagheir, Afaf / Bove, Cecilia / Macchioni, Lara / Pessia, Mauro / Al-Owain, Mohammed / D'Adamo, Maria Cristina

    Journal of neurophysiology

    2017  Volume 118, Issue 4, Page(s) 2402–2411

    Abstract: A 2-yr-old boy presented profound developmental delay, failure to thrive, ataxia, hypotonia, and tonic-clonic seizures that caused the death of the patient. Targeted and whole exome sequencing revealed two heterozygous missense variants: a novel mutation ...

    Abstract A 2-yr-old boy presented profound developmental delay, failure to thrive, ataxia, hypotonia, and tonic-clonic seizures that caused the death of the patient. Targeted and whole exome sequencing revealed two heterozygous missense variants: a novel mutation in the
    MeSH term(s) Animals ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Heterozygote ; Humans ; Infant ; Loss of Function Mutation ; Male ; Mutation, Missense ; Nerve Tissue Proteins/genetics ; Nerve Tissue Proteins/metabolism ; Potassium Channels/genetics ; Potassium Channels/metabolism ; Potassium Channels, Inwardly Rectifying/genetics ; Potassium Channels, Inwardly Rectifying/metabolism ; Seizures/genetics ; Seizures/pathology ; Syndrome ; Xenopus
    Chemical Substances KCNT1 protein, human ; Kcnj10 (channel) ; Nerve Tissue Proteins ; Potassium Channels ; Potassium Channels, Inwardly Rectifying
    Language English
    Publishing date 2017-07-26
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 80161-6
    ISSN 1522-1598 ; 0022-3077
    ISSN (online) 1522-1598
    ISSN 0022-3077
    DOI 10.1152/jn.00284.2017
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Twenty novel mutations in

    Imtiaz, Faiqa / Al-Mostafa, Abeer / Allam, Rabab / Ramzan, Khushnooda / Al-Tassan, Nada / Tahir, Asma I / Al-Numair, Nouf S / Al-Hamed, Mohamed H / Al-Hassnan, Zuhair / Al-Owain, Mohammad / Al-Zaidan, Hamad / Al-Amoudi, Mohammad / Qari, Alya / Balobaid, Ameera / Al-Sayed, Moeenaldeen

    Molecular genetics and metabolism reports

    2017  Volume 11, Page(s) 17–23

    Abstract: Maple syrup urine disease (MSUD), an autosomal recessive inborn error of metabolism due to defects in the branched-chain α-ketoacid dehydrogenase (BCKD) complex, is commonly observed among other inherited metabolic disorders in the kingdom of Saudi ... ...

    Abstract Maple syrup urine disease (MSUD), an autosomal recessive inborn error of metabolism due to defects in the branched-chain α-ketoacid dehydrogenase (BCKD) complex, is commonly observed among other inherited metabolic disorders in the kingdom of Saudi Arabia. This report presents the results of mutation analysis of three of the four genes encoding the BCKD complex in 52 biochemically diagnosed MSUD patients originating from Saudi Arabia. The 25 mutations (20 novel) detected spanned across the entire coding regions of the
    Language English
    Publishing date 2017-04-07
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2821908-9
    ISSN 2214-4269
    ISSN 2214-4269
    DOI 10.1016/j.ymgmr.2017.03.006
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.

    Khalifa, Ola / Imtiaz, Faiqa / Allam, Rabab / Al-Hassnan, Zuhair / Al-Hemidan, Amal / Al-Mane, Khalid / Abuharb, Gheid / Balobaid, Ameera / Sakati, Nadia / Hyland, James / Al-Owain, Mohammed

    Journal of medical genetics

    2012  Volume 49, Issue 4, Page(s) 246–248

    MeSH term(s) Base Sequence ; Bone and Bones/diagnostic imaging ; Cataract/diagnosis ; Cataract/genetics ; Collagen Type XI/genetics ; Craniofacial Abnormalities/diagnosis ; Craniofacial Abnormalities/genetics ; Facies ; Genes, Recessive ; Hearing Loss, Sensorineural/diagnosis ; Hearing Loss, Sensorineural/genetics ; Humans ; Infant ; Male ; Mutation ; Osteochondrodysplasias/diagnosis ; Osteochondrodysplasias/genetics ; Phenotype ; Radiography ; Sequence Analysis, DNA
    Chemical Substances COL11A1 protein, human ; Collagen Type XI
    Language English
    Publishing date 2012-04
    Publishing country England
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmedgenet-2012-100783
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Autozygome and high throughput confirmation of disease genes candidacy.

    Maddirevula, Sateesh / Alzahrani, Fatema / Al-Owain, Mohammed / Al Muhaizea, Mohammad A / Kayyali, Husam R / AlHashem, Amal / Rahbeeni, Zuhair / Al-Otaibi, Maha / Alzaidan, Hamad I / Balobaid, Ameera / El Khashab, Heba Y / Bubshait, Dalal K / Faden, Maha / Yamani, Suad Al / Dabbagh, Omar / Al-Mureikhi, Mariam / Jasser, Abdulla Al / Alsaif, Hessa S / Alluhaydan, Iram /
    Seidahmed, Mohammed Zain / Alabbasi, Bashair Hamza / Almogarri, Ibrahim / Kurdi, Wesam / Akleh, Hana / Qari, Alya / Al Tala, Saeed M / Alhomaidi, Suzan / Kentab, Amal Y / Salih, Mustafa A / Chedrawi, Aziza / Alameer, Seham / Tabarki, Brahim / Shamseldin, Hanan E / Patel, Nisha / Ibrahim, Niema / Abdulwahab, Firdous / Samira, Menasria / Goljan, Ewa / Abouelhoda, Mohamed / Meyer, Brian F / Hashem, Mais / Shaheen, Ranad / AlShahwan, Saad / Alfadhel, Majid / Ben-Omran, Tawfeg / Al-Qattan, Mohammad M / Monies, Dorota / Alkuraya, Fowzan S

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

    2018  Volume 21, Issue 3, Page(s) 736–742

    Abstract: Purpose: Establishing links between Mendelian phenotypes and genes enables the proper interpretation of variants therein. Autozygome, a rich source of homozygous variants, has been successfully utilized for the high throughput identification of novel ... ...

    Abstract Purpose: Establishing links between Mendelian phenotypes and genes enables the proper interpretation of variants therein. Autozygome, a rich source of homozygous variants, has been successfully utilized for the high throughput identification of novel autosomal recessive disease genes. Here, we highlight the utility of the autozygome for the high throughput confirmation of previously published tentative links to diseases.
    Methods: Autozygome and exome analysis of patients with suspected Mendelian phenotypes. All variants were classified according to the American College of Medical Genetics and Genomics guidelines.
    Results: We highlight 30 published candidate genes (ACTL6B, ADAM22, AGTPBP1, APC, C12orf4, C3orf17 (NEPRO), CENPF, CNPY3, COL27A1, DMBX1, FUT8, GOLGA2, KIAA0556, LENG8, MCIDAS, MTMR9, MYH11, QRSL1, RUBCN, SLC25A42, SLC9A1, TBXT, TFG, THUMPD1, TRAF3IP2, UFC1, UFM1, WDR81, XRCC2, ZAK) in which we identified homozygous likely deleterious variants in patients with compatible phenotypes. We also identified homozygous likely deleterious variants in 18 published candidate genes (ABCA2, ARL6IP1, ATP8A2, CDK9, CNKSR1, DGAT1, DMXL2, GEMIN4, HCN2, HCRT, MYO9A, PARS2, PLOD3, PREPL, SCLT1, STX3, TXNRD2, WIPI2) although the associated phenotypes are sufficiently different from the original reports that they represent phenotypic expansion or potentially distinct allelic disorders.
    Conclusions: Our results should facilitate the timely relabeling of these candidate disease genes in relevant databases to improve the yield of clinical genomic sequencing.
    MeSH term(s) Biological Variation, Population/genetics ; Child ; Child, Preschool ; Diagnosis ; Diagnostic Techniques and Procedures ; Disease/genetics ; Female ; Genetic Testing/standards ; Genetic Variation ; Genomics/methods ; Genotype ; Heredity/genetics ; High-Throughput Nucleotide Sequencing/methods ; Homozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Phenotype ; Sequence Analysis, DNA/methods
    Language English
    Publishing date 2018-09-21
    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/s41436-018-0138-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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