Literature DB >> 10922387

Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy.

B C Gohlke1, K Haug, M Fukami, W Friedl, M Noeker, G A Rappold, F Haverkamp.   

Abstract

We describe monozygotic male twins with an interstitial deletion of Xp22.3 including the steroid sulphatase gene (STS). The twins had X linked ichthyosis, X linked mental retardation, and epilepsy. A locus for X linked mental retardation has been assigned to a region between STS and DXS31 spanning approximately 3 Mb. Recently the locus was further refined to an approximately 1 Mb region between DXS1060 and GS1. By PCR analysis of flanking STS gene markers in our patients we succeeded in narrowing down the locus to between DXS6837 and GS1.

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Year:  2000        PMID： 10922387      PMCID： PMC1734650          DOI： 10.1136/jmg.37.8.600

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  8 in total

1.  Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.

Authors:  E Rajcan-Separovic; C Harvard; X Liu; B McGillivray; J G Hall; Y Qiao; J Hurlburt; J Hildebrand; E C R Mickelson; J J A Holden; M E S Lewis
Journal:  J Med Genet       Date:  2006-09-08       Impact factor: 6.318

2.  Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency-x-linked recessive ichthyosis: a case report and review of literature.

Authors:  Kirtisudha Mishra; Vineeta Vijay Batra; Srikanta Basu; Bimbadhar Rath; Renu Saxena
Journal:  Eur J Pediatr       Date:  2012-03-15       Impact factor: 3.183

3.  Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression.

Authors:  Jennifer Brault; Laurence Walsh; Gail H Vance; David D Weaver
Journal:  J Pediatr Genet       Date:  2020-08-20

4.  End-stage renal failure in a child with X-linked ichthyosis.

Authors:  Hiro Matsukura; Tatsuya Fuchizawa; Akio Ohtsuki; Hiroyuki Higashiyama; Osamu Higuchi; Akira Higuchi; Toshio Miyawaki
Journal:  Pediatr Nephrol       Date:  2003-02-07       Impact factor: 3.714

5.  Copy number variation plays an important role in clinical epilepsy.

Authors:  Heather Olson; Yiping Shen; Jennifer Avallone; Beth R Sheidley; Rebecca Pinsky; Ann M Bergin; Gerard T Berry; Frank H Duffy; Yaman Eksioglu; David J Harris; Fuki M Hisama; Eugenia Ho; Mira Irons; Christina M Jacobsen; Philip James; Sanjeev Kothare; Omar Khwaja; Jonathan Lipton; Tobias Loddenkemper; Jennifer Markowitz; Kiran Maski; J Thomas Megerian; Edward Neilan; Peter C Raffalli; Michael Robbins; Amy Roberts; Eugene Roe; Caitlin Rollins; Mustafa Sahin; Dean Sarco; Alison Schonwald; Sharon E Smith; Janet Soul; Joan M Stoler; Masanori Takeoka; Wen-Han Tan; Alcy R Torres; Peter Tsai; David K Urion; Laura Weissman; Robert Wolff; Bai-Lin Wu; David T Miller; Annapurna Poduri
Journal:  Ann Neurol       Date:  2014-06-13       Impact factor: 10.422

Review 6.  Genetic forms of epilepsies and other paroxysmal disorders.

Authors:  Heather E Olson; Annapurna Poduri; Phillip L Pearl
Journal:  Semin Neurol       Date:  2014-09-05       Impact factor: 3.420

7.  X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3.

Authors:  Jinli Bai; Yujin Qu; Yanyan Cao; Yan Li; Wenhui Zhang; Yuwei Jin; Hong Wang; Fang Song
Journal:  Mol Med Rep       Date:  2015-12-10       Impact factor: 2.952

8.  Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31.

Authors:  Jonathan D J Labonne; Terri M Driessen; Marvin E Harris; Il-Keun Kong; Soumia Brakta; John Theisen; Modibo Sangare; Lawrence C Layman; Cheol-Hee Kim; Janghoo Lim; Hyung-Goo Kim
Journal:  J Clin Med       Date:  2020-01-19       Impact factor: 4.241
  8 in total

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