Literature DB >> 18049083

Three siblings with Woodhouse-Sakati syndrome in an Indian family.

George Koshy1, Sumita Danda, Nihal Thomas, Vikram Mathews, Vijay Viswanathan.   

Abstract

Woodhouse-Sakati syndrome consists of alopecia, hypogonadism, diabetes mellitus, mild mental retardation, sensorineural deafness and ECG abnormalities. The proband described here has the above-mentioned features and presented with idiopathic thrombocytopenic purpura not reported before. Phenotypic variability is present in the three affected siblings. The two sisters have hypergonadotropic hypogonadism and the brother has hypogonadotropic hypogonadism. Camptodactyly of fourth and fifth fingers is seen in proband and her brother. We report for the first time three affected siblings of Woodhouse-Sakati syndrome in an Indian family.

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Mesh:

Year:  2008        PMID: 18049083     DOI: 10.1097/MCD.0b013e3282beb59e

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  9 in total

1.  Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome.

Authors:  Mansoor C Abdulla; Anas M Alazami; Jemshad Alungal; Jassim M Koya; Mohthash Musambil
Journal:  J Genet       Date:  2015-09       Impact factor: 1.166

Review 2.  Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature.

Authors:  M Agopiantz; P Corbonnois; A Sorlin; C Bonnet; M Klein; N Hubert; V Pascal-Vigneron; P Jonveaux; T Cuny; B Leheup; G Weryha
Journal:  J Endocrinol Invest       Date:  2014-01-08       Impact factor: 4.256

3.  Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

Authors:  Anas M Alazami; Amr Al-Saif; Abdulaziz Al-Semari; Saeed Bohlega; Soumaya Zlitni; Fatema Alzahrani; Prashant Bavi; Namik Kaya; Dilek Colak; Hanif Khalak; Andy Baltus; Borut Peterlin; Sumita Danda; Kailash P Bhatia; Susanne A Schneider; Nadia Sakati; Christopher A Walsh; Futwan Al-Mohanna; Brian Meyer; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2008-11-20       Impact factor: 11.025

4.  Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.

Authors:  Tawfeg Ben-Omran; Rehab Ali; Mariam Almureikhi; Seham Alameer; Muna Al-Saffar; Christopher A Walsh; Jillian M Felie; Ahmad Teebi
Journal:  Am J Med Genet A       Date:  2011-09-30       Impact factor: 2.802

Review 5.  Neurodegeneration with brain iron accumulation: diagnosis and management.

Authors:  Penelope Hogarth
Journal:  J Mov Disord       Date:  2015-01-13

6.  Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation.

Authors:  Olfa Hdiji; Emna Turki; Nouha Bouzidi; Imen Bouchhima; Mariem Damak; Saeed Bohlega; Chokri Mhiri
Journal:  J Mov Disord       Date:  2016-05-25

7.  Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome.

Authors:  Mohammad Almeqdadi; Jennifer L Kemppainen; Pavel N Pichurin; Ralitza H Gavrilova
Journal:  Am J Case Rep       Date:  2018-03-25

8.  Woodhouse-Sakati Syndrome Presenting With Psychotic Features After Starting Trihexyphenidyl: A Case Report.

Authors:  Mohammed A Aljaffer; Ahmad H Almadani; Mohammad AlMutlaq; Abdulaziz Alhammad; Ahmed S Alyahya
Journal:  Cureus       Date:  2022-08-01

9.  The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome.

Authors:  Molly B Sheridan; Elizabeth Wohler; Denise A S Batista; Carolyn Applegate; Julie Hoover-Fong
Journal:  Case Rep Genet       Date:  2015-11-17
  9 in total

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