In both cases, a homozygous c.421G>C (p.G141R) variant in ILDR1 (NM_001199799) was the only candidate variant consistent with the possible recessive inheritance
. Sanger sequencing confirmed cosegregation of this mutation and the hearing impairment in family 1 and family 2, with all affected individuals being homozygous and all parents of the affected being heterozygous (Figure 1).
CAPTION: Figure 1: Pedigree chart showing the index case and affected of other male members of the family suggesting an X-linked recessive inheritance
If a family with AFAP-like syndrome implies recessive inheritance
(i.e., one or more cases in one generation), one should screen for MUTYH mutations.
These data, together with the clinical presentation of the affected siblings and consistent autosomal recessive inheritance
of the mutations in the affected and unaffected members, indicate that the TMPRSS3 mutations, p.Ala306Thr, p.Arg106Cys, and p.(Phe13Serfs*12), are the cause of hearing impairment in this family.
Table 2: Genotype distribution of rs46522 between CAD and non-CAD groups in recessive inheritance
Table 1: Classification * Type 1: Infantile or "malignant" osteopetrosis, inherited in an autosomal recessive inheritance
pattern; * Type 2: "Intermediate" autosomal recessive osteopetrosis; * Type 3: Autosomal dominant osteopetrosis.
 However, cases with recessive inheritance
have also been reported.
Charcot Marie Tooth 4 (Autosomal-recessive HMSN) refers to the neuropathies with an autosomal recessive inheritance
pattern, and includes both demyelinating and axonal types.
SHFM-6 has autosomal recessive inheritance
. Ugur and Tolun 26 reported a multi generation consanguineous Turkish family having autosomal recessive inheritance
with reduced penetrance showing typical SHFM phenotypes.
It also includes Punnett Square inheritance calculators to work out patterns of recessive inheritance
and a prevalence calculator to highlight the different carrier frequencies of 19 genetic diseases in Jewish populations versus the general population.
Nonsyndromic cleft lip and palate in boxer dogs--Evidence of monogenic autosomal recessive inheritance
. Cleft Palate Craniofac J 49: 759-60.
The genealogical research concentrated on those with a family history suggestive of either dominant or recessive inheritance