Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 07-11-2013

Symbol	NLLAH
Location	10q25
Name	Noonan-like syndrome with loose anagen hair
Corresponding gene	SHOC2
Main clinical features	loose anagen hair in association with Noonan syndrome short stature, macrocephaly, enlarged cerebrospinal fluid spaces, short neck with redundant skin, severe growth hormone deficiency, mild mental retardation with attention deficit/hyperactivity disorder, heart malformation, and a unique combination of ectodermal abnormalities, skin generally darkly pigmented and hairless
Genetic determination	autosomal dominant
Prevalence	5p100 of all cases
Function/system disorder	dermatology
	cardiovascular
Type	disease

Remark(s)

. missense change in SHOC2 (producing an S2G amino acid substitution) that introduces an N-myristoylation site, resulting in aberrant targeting of SHOC2 to the plasma membrane and impaired translocation to the nucleus upon growth factor stimulation (Cordeddu 2009)