Gene Locus : human-NLGN3
Mode of mutation : Natural mutant
Disease : Neuroligin 3 Autism AUTSX1 Asperger syndrome ASPGX1
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
c.366G>A, p.W122X VCV002443311.1 hemizygous for stop-gain variant. Mother heterozygous for the same variant. Clinically, the proband presented in early adulthood with pubertal arrest, gonadotropin-releasing hormone deficiency. Treatment with testosterone esters. He had associated phenotypic features including obesity, depression, anxiety, and social and communication difficulties consistent with ASD
| Title : Combined omic analyses reveal autism-linked NLGN3 gene as a key developmental regulator of GnRH neuron biology and disease - Oleari_2023_Dis.Model.Mech__ |
| Author(s) : Oleari R , Lettieri A , Manzini S , Paganoni A , Andre V , Grazioli P , Busnelli M , Duminuco P , Vitobello A , Philippe C , Bizaoui V , Storr HL , Amoruso F , Memi F , Vezzoli V , Massa V , Scheiffele P , Howard SR , Cariboni A |
| Ref : Dis Model Mech , : , 2023 |
| Abstract : |
| PubMedSearch : Oleari_2023_Dis.Model.Mech__ |
| PubMedID: 36810932 |
| Gene_locus related to this paper: human-NLGN3 |