Oculocerebral hypopigmentation syndrome maps to chromosome 3q27.1q29

Dermatology : International Journal for Clinical and Investigative Dermatology
E ChabchoubJ P Fryns

Abstract

In 1967, Cross et al. [J Pediatr 1967;70:398-406] reported four siblings with intellectual disability, microcephaly, neurologic and ocular disorders, and hypopigmentation involving skin and hair. This novel entity, known as oculocerebral hypopigmentation syndrome (OCHS) or Cross syndrome (OMIM 257800), is assumed to be autosomal recessive. However, its genetic cause is still unknown. A 4-year-old girl is reported with OCHS, a history of recurrent infections and vertebral fusion of L4-L5. Central nervous system and cardiac imaging as well as metabolic screening were normal. Microscopic hair investigations did not show any melanin deposit defects. Using molecular cytogenetics, we detected a de novo interstitial del(3)(q27.1q29) of the paternal chromosome. To our knowledge, this is the first molecular genetics finding in a patient with OCHS. Here we discuss the genotype-phenotype correlations and suggest candidate genes for this disorder. Investigating further patients would enable fine-mapping the OCHS locus and identifying its putative gene.

References

Jan 1, 1979·American Journal of Medical Genetics·B R ElejaldeL A Arango
Sep 1, 1989·Acta paediatrica Scandinavica·W CourtensE Vamosa
Mar 1, 1967·The Journal of Pediatrics·H E CrossW Breen
Jun 15, 1993·American Journal of Medical Genetics·C P WhiteJ E Carter
Oct 1, 1995·Neuropediatrics·H StiblerU Kutsch
Jan 2, 1996·American Journal of Medical Genetics·D ChitayatL E Becker
Sep 13, 2000·American Journal of Medical Genetics·I TeshimaS Schwartz
Feb 24, 2001·Journal of Medical Genetics·P M KroiselK Wagner
Mar 25, 2008·Annals of Neurology·Karen CornilleGuy Lenaers
May 30, 2008·Nucleic Acids Research·Léon-Charles TrancheventYves Moreau
Oct 23, 2008·Nucleic Acids Research·Lars J JensenChristian von Mering

❮ Previous
Next ❯

Citations

May 9, 2015·Annales de dermatologie et de vénéréologie·C MoulinasD Lipsker
Apr 4, 2021·Dermatopathology·Trinidad Montero-VilchezSalvador Arias-Santiago

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Autism

Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research on autism.

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.