Literature DB >> 17903679

Albinism and developmental delay: the need to test for 15q11-q13 deletion.

Reem Saadeh1, Emily C Lisi, Denise A S Batista, Iain McIntosh, Julie E Hoover-Fong.   

Abstract

We report on a 17-month-old African girl with cutaneous and ophthalmologic features of oculocutaneous albinism type 2 as well as microcephaly, absent speech, and tremulous movements. Mutations of the P gene within the Angelman/Prader-Willi syndrome critical region at 15q11-q13 cause oculocutaneous albinism type 2. Comorbid oculocutaneous albinism and Angelman syndrome were suspected and confirmed by cytogenetics. Phenotypic features of Angelman syndrome or Prader-Willi syndrome in a patient with albinism should prompt further investigation.

Entities:  

Mesh：

Year:  2007        PMID： 17903679      PMCID： PMC2128718          DOI： 10.1016/j.pediatrneurol.2007.06.024

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


  13 in total

1.  Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans.

Authors:  D Durham-Pierre; R A King; J M Naber; S Laken; M H Brilliant
Journal:  Hum Mutat       Date:  1996       Impact factor: 4.878

2.  Angelman's syndrome: clinical and electroencephalographic findings.

Authors:  D I Rubin; M C Patterson; B F Westmoreland; D W Klass
Journal:  Electroencephalogr Clin Neurophysiol       Date:  1997-04

3.  Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele.

Authors:  R A Spritz; T Bailin; R D Nicholls; S T Lee; S K Park; M J Mascari; M G Butler
Journal:  Am J Med Genet       Date:  1997-07-11

Review 4.  Molecular genetics of oculocutaneous albinism.

Authors:  R A Spritz
Journal:  Hum Mol Genet       Date:  1994       Impact factor: 6.150

5.  Albinism in Nigeria. A clinical and social study.

Authors:  A N Okoro
Journal:  Br J Dermatol       Date:  1975-05       Impact factor: 9.302

6.  Hypopigmentation in Angelman syndrome.

Authors:  R A King; G L Wiesner; D Townsend; J G White
Journal:  Am J Med Genet       Date:  1993-04-01

7.  Assessment of anticonvulsant effectiveness and safety in patients with Angelman's syndrome using an Internet questionnaire.

Authors:  Daniel H Nolt; J Michael Mott; Wenee L Lopez
Journal:  Am J Health Syst Pharm       Date:  2003-12-15       Impact factor: 2.637

8.  African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.

Authors:  D Durham-Pierre; J M Gardner; Y Nakatsu; R A King; U Francke; A Ching; R Aquaron; V del Marmol; M H Brilliant
Journal:  Nat Genet       Date:  1994-06       Impact factor: 38.330

9.  Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Authors:  G A Bellus; T W Hefferon; R I Ortiz de Luna; J T Hecht; W A Horton; M Machado; I Kaitila; I McIntosh; C A Francomano
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025

10.  The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.

Authors:  J M Gardner; Y Nakatsu; Y Gondo; S Lee; M F Lyon; R A King; M H Brilliant
Journal:  Science       Date:  1992-08-21       Impact factor: 47.728
View more
  2 in total

1.  Multimodal imaging in a patient with Prader-Willi syndrome.

Authors:  Mohamed A Hamid; Mitul C Mehta; Baruch D Kuppermann
Journal:  Int J Retina Vitreous       Date:  2018-11-30

2.  Retinal biomarkers and pharmacological targets for Hermansky-Pudlak syndrome 7.

Authors:  Giovanni Luca Romano; Chiara Bianca Maria Platania; Gian Marco Leggio; Sebastiano Alfio Torrisi; Salvatore Giunta; Salvatore Salomone; Michele Purrello; Marco Ragusa; Cristina Barbagallo; Frank J Giblin; Rosa Mastrogiacomo; Francesca Managò; Maurizio Cammalleri; Francesco Papaleo; Filippo Drago; Claudio Bucolo
Journal:  Sci Rep       Date:  2020-03-04       Impact factor: 4.379
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.