Summary of clinical features for affected individuals with HERC2 mutations
Publication and pedigree | Individual | Gender | Age seen (years) | Speech | Walked (years) | Intellectual disability | Childhood hypotonia | Seizures | Neuroimaging | Blindness | Genotype (NM_004667.5) |
| This report | II:3 | F | 6 (died 7) | N | N | ++++ | Y | Y | CMD, ACC | Y | c.13767_13770delTGAA p.(Asn4589LysfsTer4598) |
| II:5 | M | 1.5 (died 4) | N | N | ++++ | Y | N | CMD, ACC | Y | ||
| II:6 | F | 3.5 | N | N | ++++ | Y | Y | CMD, ACC | Y | ||
| Harlalka et al: 1A9 | VIII:7 | F | 39 | 100 words | 4.3 | ++ | Y | N | Nor | N | c.1781C>T, p.(Pro594Leu); |
| VIII:8 | M | 35 | <30 words | 4.3 | ++/+++ | Y | N | NK | N | ||
| IX:1 | F | 24 | SS | 4 | ++ | Y | N | NK | N | ||
| IX:6 | M | 17 | SS | 4 | ++ | Y | Y | NK | N | ||
| IX:7 | F | 19 | SS | 4 | ++ | Y | N | Nor | N | ||
| X:1 | F | 13.6 | <30 words | 4 | ++ | Y | N | Nor | N | ||
| X:2 | F | 12.6 | 10 words | 4 | ++ | Y | N | NK | N | ||
| X:4 | F | 5.1 | N | N | ++/+++ | Y | N | ACC | N | ||
| X:5 | F | 6.7 | SS | 5 | ++ | Y | N | NK | N | ||
| XI:2 | M | 7.8 | Limited | 3.5 | + | Y | N | NK | N | ||
| XI:3 | M | 5.1 | 20 words | N | ++ | Y | Y | ACC | N | ||
| Harlalka et al: 1B9 | IX:8 | M | 17.8 | SS | 4.5 | +/++ | NK | Y | ACC | N | c.1781C>T, p.(Pro594Leu) |
| IX:10 | M | 16.8 | SS | 4 | +/++ | NK | N | NK | N | ||
| IX:1 | F | 0.97 | N | N | ++ | Y | Y | NK | N | ||
| IX:2 | F | 2.7 | <10 words | N | +/++ | Y | N | NK | N | ||
| Puffenberger et al8 | Michigan sibship P1 | NK | 32 | NKa | NKb | +/++/+++c | Y | N | NK | N | c.1781C>T, p.(Pro594Leu) |
| Michigan sibship P2 | NK | 25 | NKa | NKb | +/++/+++c | Y | N | NK | N | ||
| Michigan sibship P3 | NK | 31 | NKa | NKb | +/++/+++c | N | N | NK | N | ||
| Wisconsin sibship P1 | F | 7 | NKa | NKb | +/++/+++c | N | Y | NK | N | c.1781C>T, p.(Pro594Leu) | |
| Wisconsin sibship P2 | F | 2 | NKa | NKb | +/++/+++c | N | Y | NK | N | ||
| Puffernberger et al8/Abraham et al7 | Puffenberger Ohio sibship P1/Abraham #1 | F | Puffenberger: 40 Abrahams: 47 | NKa | NKb | +/++/+++c | N | N | NKd | N | c.1781C>T, p.(Pro594Leu) |
| Puffernberger Ohio sibship P2/Abraham #2 | M | Puffenberger: 37 Abrahams: 43 | NKa | NKb | +/++/+++c | N | N | NKd | N | ||
| Abraham et al7 | #3 | M | 23 | Few words | Nor | ++ | N | N | NK | NK | c.4625G>A, p.Arg1542His |
| #4 | F | 11 | 10 words at 2 years, SS at 3 years | Nor | + | N | Y | N | N | ||
| Morice-Picard et al10 | Proband | M | 0, died 2 years | NK | NK | NK | Y | NK | ACC, CMD, megacisterna magna | NK (moderate retinal hypopigmentation) | chr15: g. 28143765_28429460 del including OCA2 and HERC2 |
| Proportion with feature (where known) | Delayed speech: 20/20 | Delayed walking: 18/20 | Intellectual disability: 27/27 | Childhood hypotonia: 19/26 | Seizures: 9/27 | Abn neuroimaging: 7/11 | Blindness: 3/26 | ||||
NKa means details of individual cases not known; most had words by 2 years.
NKb means details of individual cases not known, walked at an average of 3.5 years (range 2.25–5.0 years).
+c means details of individual cases not known, range mild–moderate/severe.
NKd means details of individual cases not known, one sibling with normal MRI and one with mild cerebral atrophy.
+ indicates mild; ++ indicates moderate; +++ indicates severe; ++++ indicates profound.
Abn, abnormal; ACC, absent corpus callosum; CMD, cortical migration defect; F, female; M, male; N, no; NK, not known; Nor, normal; SS, short sentence; Y, yes.