Table 1 KIRREL3 alterations described in literature to date
PATIENT | STUDY | KIRREL3 ALTERATION | INHERITANCE | CLINICAL PRESENTATION |
|---|---|---|---|---|
1 | Bhalla et al. [3] (2008) | c.2191G > T; p.Val73Phe | De novo | Mild ID |
2 | Bhalla et al. [3] (2008) | c.1007G > A; p.Arg336Gln | De novo | ID |
3 | Bhalla et al. [3] (2008) | c.1007G > A; p.Arg336Gln | De novo | ID |
4 | Bhalla et al. [3] (2008) | c.1007G > A; p.Arg336Gln | De novo | ID |
5 | Bhalla et al. [3] (2008) | c.118 C > T; p.Arg40Trp | De novo | Severe ID |
6 | Bhalla et al. [3] (2008) | t(11;16)(q24.2;q24) involving KIRREL3 | De novo | Severe ID, dysmorphisms |
7 | Talkowski et al. [11] (2012) | t(11;X)(q24.2;p11.4) involving KIRREL3 | De novo | Developmental disorder |
8 | Michaelson et al. [12] (2018) | chr11:126293122 A > G (non coding) | De novo | ASD |
9 | Michaelson et al. [12] (2018) | chr11:126293122 A > G (non coding) | De novo | ASD |
10 | Kalsner et al. [14] (2018) | c.1177G > A p.Ala393Thr | Maternal | DD, ASD, dysmorphisms, Chiari I malformation |
11 | Kalsner et al. [14] (2018) | c.1238 C > T p.Thr413Ile | Paternal | DD, ASD, dysmorphisms, Chiari I malformation |
12 | Kalsner et al. [14] (2018) | c.1177G > A p.Ala393Thr | Maternal | DD, ASD, dysmorphisms, central apnea |
13 | Kalsner et al. [14] (2018) | c.1231G > C p.Glu411Gln | Maternal | DD, ASD, dysmorphisms, allergies |
14 | Kalsner et al. [14] (2018) | c.1566G > T p.Lys522Asn | Paternal | DD, ASD |
15 | Kalsner et al. [14] (2018) | c.655G > T p.Val219Leu | Paternal | DD, ASD |
16 | Leblond et al. [15] (2019) | c.1685G > T p.Arg562Leu | Maternal and Paternal (homozygosity) | ASD |
17 | Guo et al. [16] (2019) | c. 1985G > A p.Arg662His | De novo | ASD |
18 | Taylor et al. [13] (2020) | c.2019G > A p.Met673Ile | De novo | ID, ADHD, obesity, dysmorphisms, altered fine motility, brain MRI alterations |
19 | Hildebrand et al. [17] (2020) | c.2186G > T p.Ser729Ile | Unknown | CAS, phonological delay, reading and spelling deficits, speech pathology, dysmorphisms |
20 | Ciaccio et al. [10] (2021) | c.764 C > T p.Ser255Leu | De novo | ID, ASD, muscular hypotonia, ataxic gate, EEG abnormalities, dysmorphisms, brain MRI alterations |
21 | Present study | c.2003G > C; p.Arg668Pro | De novo | Mild ID, dysmorphisms, brain MRI alterations |