Table 1.
Summary of clinical and molecular findings of four genes involved in autosomal recessive MMIHS
| Gene | LMOD1 | MYLK | MYL9 | MYH11 | ||||
|---|---|---|---|---|---|---|---|---|
| Patient number | 1 | 2 | 1 | 1 | 1 | 1 | 1 | 2 |
| Age | Neonate | Fetuses | Neonate | Neonate | Neonate | Neonate | 7 years | Fetuses |
| Gender | F | 1F/1M | F | F | M | M | F | M |
| Consangunity | + | + | + | + | + | - | - | - |
| Zygosity | Homo | Homo | Homo | Homo | Homo | Compound hetero | Hetero+CNV | Compound hetero |
| Variants | c.1108 C > T (p.Arg370*) (NM_012134.2) | c.3838_3844dupGAAAGCG (p.Glu1282_Glyfs*51) (NM_053025.3) | c.3985þ5C > A (NM_053025.3) | a deletion of 6964 bp (chr20:g.36548744_36555707del) (ENST00000279022.6) | c.3598 A > T (p.Lys1200Ter) (NM022844) | c.2809_2810del (p.Arg937Glyfs*7) (paternal) c.3422_3470del (p.Lys1141Thrfs*20) (maternal) | c.379 C > T (paternal) 1.3 Mb deletion in 16p13.11 (maternal) (NM_001040113.1) | c.2051 G > A (p.R684H) (maternal) c.3540_3541delinsTT(p.(E1180D,Q1181Ter)) (paternal) (NM_001040114) |
| Inheritance | Inherited from hetero parents | Inherited from hetero parents | Inherited from hetero parents | Inherited from hetero parents | Inherited from hetero parents | Inherited from hetero parents | Inherited from hetero parents | Inherited from hetero parents |
| Molecular testing | WES | WES | WES | WES | WES | WES | Sanger sequencing + arrayCGH | Targeted exome sequencing + Sanger sequencing |
| Ultrasonography | Prenatal + Postnatal | Prenatal | Postnatal | Prenatal+Postnatal | Prenatal | Prenatal+Postnatal | Prenatal+Postnatal | Prenatal |
| Megacystis | + | + | + | + | + | + | + | + |
| Hydronephrosis | + | − | + | + | − | − | − | + |
| Malrotation or obstruction of the intestine | + | − | + | − | − | − | − | − |
| Other phenotype | TPN, microcolon | Subcutaneous edema, oligohydramnios,respiratory distress | Polyhydramnios, microcolon | Microcolon, intestinal hypoperistalsis, mild mydriasis | Lung hypoplasia | Anhydramnios, dilated pupils, microcolon, ileal atresia, dilated esophagus | Microcolon, motor development delay, pupil dysfunction, growth hormone deficiency, central hypothyroidism | Oligohydramnios |
| Surgery | − | − | + | Not described | − | + | + | − |
| Outcome | Deceased | Pregnancy terminated/deceased | Deceased | Deceased | Deceased | Deceased | Alive | Pregnancy terminated |
| References | [8] | [9] | [10] | [11] | [12] | [13] | This report | |
+ present, − absent, Hetero heterozygous, Homo homozygous, CNV copy number variation, TPN total parenteral nutrition, WES whole exome sequencing