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Wikipedia

White Sutton syndrome

February 25, 2024

Not to be confused with Sutton's disease.

White–Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder that affects different systems of the human body. It is mainly characterized by developmental delay, intellectual disability, craniofacial abnormalities and commonly features of autism spectrum disorder (ASD).[1]

Presentation edit

Patients with White–Sutton syndrome might have the following symptoms:[1]

Genetics edit

It is caused by heterozygous mutation in the POGZ gene on chromosome 1q21. The condition is inherited in an autosomal dominant pattern.[3]

Epidemiology edit

This condition is considered to be rare with ~50 cases reported in the literature as of 2019.[4]

History edit

White–Sutton syndrome is named for doctors Janson White, Ph.D. and V. Reid Sutton, M.D.[5] In his role as a clinical researcher with the Baylor-Johns Hopkins Center for Mendelian Genomics, Sutton worked with graduate student Janson White on the description of the spectrum of developmental and health issues in individuals with variants in the POGZ gene, first detailed in White's paper, "POGZ truncating alleles cause syndromic intellectual disability"[6] in January 2016. In June 2016, the Online Mendelian Inheritance in Man (OMIM) designated this as “White–Sutton syndrome”.

References edit

  1. ^ a b Reference, Genetics Home. "White-Sutton syndrome". Genetics Home Reference. Retrieved 2018-11-23.
  2. ^ "WHITE-SUTTON SYNDROME; WHSUS | MENDELIAN.CO". www.mendelian.co (in Spanish). Retrieved 2018-11-23.
  3. ^ "OMIM Entry - # 616364 - WHITE-SUTTON SYNDROME; WHSUS". www.omim.org. Retrieved 2018-11-23.
  4. ^ Assia Batzir N, Posey JE, Song X, Akdemir ZC, Rosenfeld JA, Brown CW, Chen E, Holtrop SG, Mizerik E, Nieto Moreno M, Payne K, Raas-Rothschild A, Scott R, Vernon HJ, Zadeh N, Lupski JR, Sutton VR (2019) Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A
  5. ^ "Meet the Doctors". White Sutton Syndrome Foundation. Retrieved 2019-07-18.
  6. ^ White, Janson; Beck, Christine R.; Harel, Tamar; Posey, Jennifer E.; Jhangiani, Shalini N.; Tang, Sha; Farwell, Kelly D.; Powis, Zöe; Mendelsohn, Nancy J. (2016-01-06). "POGZ truncating alleles cause syndromic intellectual disability". Genome Medicine. 8 (1): 3. doi:10.1186/s13073-015-0253-0. ISSN 1756-994X. PMC 4702300. PMID 26739615.

February 25, 2024
white, sutton, syndrome, confused, with, sutton, disease, white, sutton, syndrome, whsus, rare, neurodevelopmental, disorder, that, affects, different, systems, human, body, mainly, characterized, developmental, delay, intellectual, disability, craniofacial, a. Not to be confused with Sutton s disease White Sutton syndrome WHSUS is a rare neurodevelopmental disorder that affects different systems of the human body It is mainly characterized by developmental delay intellectual disability craniofacial abnormalities and commonly features of autism spectrum disorder ASD 1 Contents 1 Presentation 2 Genetics 3 Epidemiology 4 History 5 ReferencesPresentation editPatients with White Sutton syndrome might have the following symptoms 1 Developmental delay with speech and language usually being more delayed than motor skills such as walking Intellectual disability which can range from borderline normal to severe Craniofacial features include microcephaly brachycephaly hypertelorism midface hypoplasia a flat or sunken appearance of the middle of the face Neuropsychiatric hyperactivity sleeping difficulties Features of autism spectrum disorder and overly friendly behavior Sensorineural hearing loss and visual defects mainly farsightedness strabismus Gastrointestinal problems e g poor feeding gastroesophageal reflux constipation 2 Obesity short stature Diaphragmatic herniaGenetics editIt is caused by heterozygous mutation in the POGZ gene on chromosome 1q21 The condition is inherited in an autosomal dominant pattern 3 Epidemiology editThis condition is considered to be rare with 50 cases reported in the literature as of 2019 4 History editWhite Sutton syndrome is named for doctors Janson White Ph D and V Reid Sutton M D 5 In his role as a clinical researcher with the Baylor Johns Hopkins Center for Mendelian Genomics Sutton worked with graduate student Janson White on the description of the spectrum of developmental and health issues in individuals with variants in the POGZ gene first detailed in White s paper POGZ truncating alleles cause syndromic intellectual disability 6 in January 2016 In June 2016 the Online Mendelian Inheritance in Man OMIM designated this as White Sutton syndrome References edit a b Reference Genetics Home White Sutton syndrome Genetics Home Reference Retrieved 2018 11 23 WHITE SUTTON SYNDROME WHSUS MENDELIAN CO www mendelian co in Spanish Retrieved 2018 11 23 OMIM Entry 616364 WHITE SUTTON SYNDROME WHSUS www omim org Retrieved 2018 11 23 Assia Batzir N Posey JE Song X Akdemir ZC Rosenfeld JA Brown CW Chen E Holtrop SG Mizerik E Nieto Moreno M Payne K Raas Rothschild A Scott R Vernon HJ Zadeh N Lupski JR Sutton VR 2019 Phenotypic expansion of POGZ related intellectual disability syndrome White Sutton syndrome Am J Med Genet A Meet the Doctors White Sutton Syndrome Foundation Retrieved 2019 07 18 White Janson Beck Christine R Harel Tamar Posey Jennifer E Jhangiani Shalini N Tang Sha Farwell Kelly D Powis Zoe Mendelsohn Nancy J 2016 01 06 POGZ truncating alleles cause syndromic intellectual disability Genome Medicine 8 1 3 doi 10 1186 s13073 015 0253 0 ISSN 1756 994X PMC 4702300 PMID 26739615 Retrieved from https en wikipedia org w index php title White Sutton syndrome amp oldid 1203260927, wikipedia, wiki, book, books, library,

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