Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family

Bettina Borm; Lisbeth Birk Møller; Ingrid Hausser; Michael Emeis; Kurt Baerlocher; Nina Horn; Rainer Rossi

doi:10.1016/j.jpeds.2004.04.033

Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family

J Pediatr. 2004 Jul;145(1):119-21. doi: 10.1016/j.jpeds.2004.04.033.

Authors

Bettina Borm¹, Lisbeth Birk Møller, Ingrid Hausser, Michael Emeis, Kurt Baerlocher, Nina Horn, Rainer Rossi

Affiliation

¹ Department of Pediatrics, Klinikum Neukölln, Berlin, Germany.

PMID: 15238919
DOI: 10.1016/j.jpeds.2004.04.033

Abstract

Two maternal half-brothers presented with huge cephalic hematoma, fatal in one. Skin morphology disclosed lack of elastic fibres. Their maternal uncle is moderately mentally handicapped and has extensive connective tissue disorders. In all these patients, an identical missense mutation in the ATP7A gene was found and confirmed Menkes' disease.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adenosine Triphosphatases / genetics*
Adult
Cation Transport Proteins / genetics*
Copper / blood
Copper-Transporting ATPases
DNA Mutational Analysis
Humans
Infant
Male
Menkes Kinky Hair Syndrome / genetics*
Mutation, Missense*
Recombinant Fusion Proteins / genetics*

Substances

Cation Transport Proteins
Recombinant Fusion Proteins
Copper
Adenosine Triphosphatases
ATP7A protein, human
Copper-Transporting ATPases