Most of the HND have autosomal recessive inheritance
The Papillon-Lefevre syndrome (PLS) is a very rare syndrome of autosomal recessive inheritance
characterized by palmoplantar hyperkeratosis and early onset periodontitis, leading to premature loss of both primary and permanent dentition.
Nevertheless, based on the finding of a healthy, unaffected heterogyzous mother, it could be assumed that the variant presented here, p.Gln33*, represents an autosomal recessive inheritance
It exhibits autosomal recessive inheritance
and is characterized by mutation in the UBR1 gene on the long arm of Chromosome 15.
Mutations in genes such as RP1L1 [8q23.1], RLBP1 (retinaldehyde binding protein 1) [15q26.1], CRB1 (crumbs family member 1) [1q31.3], ABCA4 (ATP-binding cassette subfamily A member 4) [1p22.1], RPE65 (retinal pigment epithelium-specific protein 65kDa) [1p31.2], and CNGB1 (cyclic nucleotide gated channel beta 1) [16q21] also share 1%, 1%, 6.5%, 2%, and 4%, respectively, in autosomal recessive inheritance
Both autosomal dominant inheritance and autosomal recessive inheritance
of nanophthalmos have been reported, and a fair amount of genetic heterogeneity is suggested by the finding so far of five nanophthalmos genes and two nanophthalmos loci.
Nonsynonymous variants with an MAF of 0.005 or less and consistent with the autosomal recessive inheritance
were considered as candidate pathogenic mutations.
(15) Bietti corneal dystrophy shows an autosomal recessive inheritance
pattern and is characterized by progressive night blindness and narrowing of the visual field.
One hundred twenty-two individuals from 21 families who had two or more hearing-impaired children and consanguineous marriage, and whose pedigree suggested autosomal recessive inheritance
were included in this study.
Further evidence for autosomal recessive inheritance
. J Med Genet 1971; 8:478.
Introduction: Spinal muscular atrophy (SMA) is generally a neuromuscular disease with autosomal recessive inheritance
and occur due to the mutations in survival motor neuron (SMN) gene.
Chrispin, "Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance
," Journal of Medical Genetics, vol.