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GENATLAS PHENOTYPE

last update : 01-06-2016

Symbol	LCCSR
Location	14q24.3
Name	lethal congenital contracture with short ribs
Other name(s)	lethal congenital contracture syndrome 10
Corresponding gene	NEK9
Other symbol(s)	LCCS10
Main clinical features	fetal akinesia, multiple contractures, shortening of upper and lower limbs, bowed short femurs, short broad ribs, narrow chest and thorax, pulmonary hypoplasia, lethal skeletal dysplasia multiple contractures and short bowed femurs lethal skeletal dysplasia with evidence of cell cycle and ciliary defects
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

Remark(s)

analysis of NEK9 patient fibroblasts showed a significant reduction in cilia number and length, similar to the findings in NEK1 patients (PMID: 26908619)) truncated mutant protein lacks the majority of the RCC1-like domain, with complete loss of the NEK6 interaction region and the coiled-coil domain (PMID: 26908619))