Table 1. Clinical phenotype of individuals with causative variants using the features mentioned by Wieczorek et al 3 that are associated with BMKS.
| Clinical phenotype of individuals with causative variants | |||||
|---|---|---|---|---|---|
| ID in pedigree | III.2 family 1 | III.1 family 2 | III.1 family 3 | V.4 family 4 | V.6 family 4 |
| Gender | Female | Male | Male | Male | Female |
| Age at examination | 37 years | 7 years | |||
| Genetic testing | TCOF1 CHD7 SNP array WGS MLPA | Affymetrix 750 K microarray TXNL4A MLPA | Affymetrix 750 K microarray -> 18p11.32q23 (136,300-77,997,592) hmz uniparental disomy for chromosome 18 TXNL4A MLPA | Karyo TXNL4A MLPA | TXNL4A MLPA |
| Variant carried by father | c.258-2A>G, (p.?) | hg19 chr18:g.77748581_77748614del (type 1Δ) | hg19 chr18:g.77748581_77748614del (type 1Δ) | hg19 chr18: g.77748604_77748637del (type 2Δ) | hg19 chr18: g.77748604_77748637del(type 2Δ) |
| Variant carried by mother | hg19 chr18:g.77748581_77748614del (type 1Δ) | c.258-2A>G, (p.?) | hg19 chr18:g.77748581_77748614del (type 1Δ) | hg19 chr18: g.77748604_77748637del(type 2Δ) | hg19 chr18: g.77748604_77748637del(type 2Δ) |
| Positive family history | Y father scleral show | N | N | Y | Y |
| Normal pregnancy | Y | Polyhydramnios | IVF ICSI Failure to progress | Polyhydramnios | Polyhydramnios |
| Asymmetry of the face | Y | N | N | ||
| Hypertelorism | N | N | N | ||
| Short palpebral fissures | Y | N | N | ||
| Defect of lower eyelids | Y | Y (B) | N | N | |
| Aplasia of puncta lacrimalis | Y (L) | ||||
| Prominent nasal bridge | Y | Y | Y | Y | |
| Short philtrum | N | Y | Y | ||
| Thin lips | Y | Y | N | ||
| Cleft lip or palate | N | Y (L) | N | N | |
| Bifid uvula | N | N | N | ||
| Bilateral choanal atresia/ stenosis | Bilateral (bony) | Bilateral | Bilateral (bony) | Bilateral (bony) | Bilateral |
| Prominent ears | Y | Y | Y | ||
| Preauricular tags | Y (R) | Y (R) | |||
| Maxillary hypoplasia | Y (R) | Y | Y | ||
| Micrognathia | Y (R) | Y | N | ||
| Cardiac defect | N | Asymptomatic ASD and VSD | |||
| Hearing loss | N | N | N | ||
| Normal psychomotor development | Y | Y | Y | Y | |
| Short stature | Y | N | N | ||
| Other | Hypoplasia infra-orbital rim (R) Upslanting palpebral fissures Eyelashes were longer laterally than medially Choroid coloboma (L) Microstrabismus Amblyopia | Dimple on the cheek Hypermetropia | Downslanting palpebral fissures Prognathism High arched narrow palate Absence of the upper and lower deciduous premolars Hypodontia of four permanent premolars | Cowlick Downslanting palpebral fissures Prognathism Dental malocclusion Narrow palate Unilateral absence of the permanent upper lateral incisor | |
Abbreviations: ASD, atrial septal defect; B, bilateral; Hom, homozygous; ICSI, intracytoplasmic sperm injection; IVF, in vitro fertilization; Karyo, karyotype; L, left; M, maternal; N, no; P, paternal; R, right; VSD, ventricular septal defect; WGS, whole-genome sequencing; Y, yes. Blank entries indicate that information was not available.