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GENATLAS PHENOTYPE

last update : 06-07-2022

Symbol	LHPS
Location	19q13.43
Name	male infertility with large-headed polyploid spermatozoa
Other name(s)	Spermatogenic failure 5
Corresponding gene	AURKC
Other symbol(s)	SPGF5
Main clinical features	male infertility normal somatic karyotype typical spermatozoa mainly characterized by large heads, a variable number of tails and an increased chromosomal content
Genetic determination	autosomal recessive
Function/system disorder	sex-genitalia
Type	other

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
deletion		truncated protein	single nucleotide deletion in the AURKC coding sequence

Remark(s)

this founder mutation results in premature termination of translation, yielding a truncated protein that lacks the kinase domain homozygous mutation (c.144delC) led to the production of large-headed polyploid multi-flagellar spermatozoa, a primary infertility phenotype mainly observed in North Africans (PMID: 19147683))