Table1.
Clinical Manifestations in Affected Individuals Harboring KLHL41 Mutations
| Proband ID | cDNA Change | Amino Acid Change | Clinical Category | Sex | Nationality | Pregnancy and Delivery | Alive at Age/Mobility/ Age at Death | Associated Features | |
|---|---|---|---|---|---|---|---|---|---|
| 203-1 | c.103T>C c.(?_-77)_(∗602_?)del | p.Cys35Arg Heterozygous p.0? Heterozygous | Intermediate | F | Vietnamese | Normal | 16 yrs, uses wheelchair (ambulant 24–36 mo) | Ventilated 24 hr from 5 yrs. High-arched palate, dysarthria Scoliosis | |
| 832-1 | c.459delinsACTC | p.Ser153_Ala154insLeu Homozygous | Other forms (grade of severity: mild) | M | Russian | No data | 12 yrs, ambulant | Distal weakness > proximal distal contractures | |
| D10-236 | c.581_583delAAG | p.Glu194del Heterozygous | Typical form | M | Chinese | Normal - h 40 | 5 yrs, ambulant | VSD, finger contractures, focal renal echogenicity | |
| c.1238C>T | p.Ser413Leu Heterozygous | ||||||||
| D12-203 | c.1748_1755del AAGGAAAT, | p.Lys583Thrfs∗7 Homozygous | Fetal akinesia sequence | M | Persian | Polyhydramnios, breech presentation, emergency Cesarean section - h 31+2 | Died at 3 mo (active support discontinued) | Arthrogryposis, macrocephaly, hypospadias No antigravity movements at birth | |
| 12DG1177 | c.641delA | p.Asn214Thrfs∗14 Homozygous | Severe form Fetal akinesia sequence | M | Saudi Arabian | Fetal movements weak, breech presentation | Died during 1st day of life | Dislocation of hips and knees, cleft palate, micrognathia, narrow chest | |