Table 1 (adapted fom Kosaki et al. 2017): ID, identity of the patient; CI, cochlear implant; LF, low frequency; NA, not applicable; NR, not recorded: POI, primary ovarian insufeciency; SNHL, sensorineural hearing loss; FSH, follicular stimulating hormone; LH, luteininsing hormone.
From: LARS2-Perrault syndrome: a new case report and literature review
ID | Family 1, II-1 | Family 1, II-2 | Family 1, II-3 | Family 2, proband | II1 | II3 proband | P2:II-1 proband | P2:II-2 | P3:II-1 proband | P3:II-2 | Patient III-3 | III-1 proband | III-5 | Patient 1 - proband | Patient 2 | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Index case | Our Patient |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Variants | c.1565C>A (p.Thr522Asn) | c.1565C>A (p.Thr522Asn) | c.1565C>A (p.Thr522Asn) | c.1077delT (p.IIe360PhefsTer15) c.1886C>T (p.Thr629Met) | c.899C>T (p.Thr300Met) c.1912G>A (p.Glu638Lys) | c.899C>T (p.Thr300Met) c.1912G>A (p.Glu638Lys) | c.1565C>A (p.Thr522Asn) | c.1565C>A (p.Thr522Asn) | c.351G>C (p.Met117IIe) c.1565C>A (p.Thr522Asn) | c.351G>C (p.Met117IIe) c.1565C>A (p.Thr522Asn) | c.1358G>A (p.Arg453Gln) c.1886C>T (p.Thr639Met) | c.1565C>A (p.Thr522Asn) | c.1565C>A (p.Thr522Asn) | c.880G>A, p.(Glu294Lys); c.1556C>T, p.(Thr519Met) | c.880G>A, p.(Glu294Lys); c.1556C>T, p.(Thr519Met) | c.462delT, p.(Lys155Asnfs*3); c.1120A>C, p.(Ile374Leu) | c.1987C>T, p.(Arg663Trp); c.371A>T, p.(Asn124Ile) | c.516G>T, p.(Arg172Ser); c.1028C>T, p.(Thr343Met) | c.683G>A, p.(Arg228His); c.880G>A, p.(Glu294Lys) | c.457A>C, p.(Asn153His) | c.457A>C, p.(Asn153His); c.1565C>A, p.(Thr522Asn) |
References | Pierce et al. (2013) [8] | Pierce et al. (2013) [8] | Pierce et al. (2013) [8] | Pierce et al. (2013) [8] | Solda et al. (2016) [14] | Solda et al. (2016) [14] | Demain et al. (2017) [10] | Demain et al. (2017) [10] | Demain et al. (2017) [10] | Demain et al. (2017) [10] | Lerat et al. (2016) [16] | Zerkaoui et al. 2017 [5] | Zerkaoui et al. 2017 [5] | Kosaki et al. (2018) [7] | Kosaki et al. (2018) [7] | Van der Knaap et al. (2019) [15] | Van der Knaap et al. (2019) [15] | Van der Knaap et al. (2019) [15] | Van der Knaap et al. (2019) [15] | Al-Jaroudi et al. (2019) [9] | our case |
Ethnicity | Palestinian | Palestinian | Palestinian | Slovenian | Italian | Italian | Argentinian | Argentinian | White British | White British | Sri Lankan | Marrocan | Marrocan | NR | NR | NR | NR | NR | NR | Saudi arabia | France |
Consanguinity | Yes | Yes | Yes | No | No | No | No | No | No | No | No | Yes | Yes | No | No | NR | NR | NR | NR | Yes | No |
Sex | Male | Female | Male | Female | Male | Female | Female | Male | Female | Male | Female | Female | Male | Female | Female | Female | Male | Male | Female | Female | Female |
Age at last assessment (years) | 17 | 17 | 13 | 30 | 40 | 31 | 27 | 26 | 25 | 26 | NR | 23 | 16 | 17 | 11 | 32 | 37 | 8 | 45 | 27 | 8 |
Sensorineural hearing loss | |||||||||||||||||||||
Age at diagnosis (years) | 3-5 | 3-5 | 3-5 | 3-5 | congenital | - | 8 | 26 | 2.5 | 2.5 | <3 | 23 | 16 | 18 m.o. | congenital | congenital | congenital | congenital | congenital | congenital | 4 |
Degree of hearing loss | Severe to profound | Right : severe at low frequencies, moderate at high frequencies. Left: moderate at low frequencies, mild at high frequencies | Severe to moderate at low frequencies, moderate to mild at high frequenies | Severe | Profound | Profound | Moderate | Mild/ moderate | Severe/ profound | Severe/ profound | Moderate | Moderate/ profound | Moderate/ profound | NR | NR | Profound | NR | Profound | NR | Profound | Severe |
Notes | Bilateral LF SNHL | LF SNHL | Bilateral LF SNHL | None | Progressive SNHL | Progressive SNHL | LF | LF | LF | LF | Not progressive | Progressive | Progressive | - | - | - | - | - | - | - | Bilateral SNHL |
Intervention | NR | No hearing aid | NR | NR | Bilatera CI | Bilatera CI | CI | NR | CI | NR | NR | Hearing aid | Hearing aid | NR | NR | NR | Hearing aid | Unilateral CI | Unilateral CI | NR | Unilateral CI |
Pelvic US | NA | Small uterus, ovaries not visualized | NA | NR | NA | Bicornate uterus, hypoplastic left ovary, right ovary not visualised | Small uterus and ovaries | NA | Small uterus and ovaries | NA | NR | Small uterus, ovaries not visualized | NA | Hypotrophic uterus, ovaries not visualized | Hypotrophic uterus, ovaries not visualized | NA | NA | Streak ovaries | Hypoplastic uterus and streak ovaries | Left ovary not well visualised | |
Menarche | NA | No | NA | Yes | NA | Yes | No | NA | Yes | NA | No | NR | NA | No | No | Yes | NA | NA | Yes- 16 | No | No |
POI- age if menarche achieved | NA | Yes | NA | Yes-19 | NA | Yes-28 | NA | NA | Yes | NA | NA | NA | NA | NA | NA | Yes- 29 | - | - | Yes- soon after menarche | - | NA |
FSH (IU/I) | NR | 76.9 | NR | 101 | NR | 118 | 99.6 (2.3-29) | NR | 74 (<30) | 3.1 (1-11) | NR | 51 | NR | 46.90 IU/L | 22.06 IU/L | NR | NR | NR | NR | 88.4 IU/L | NR |
LH (IU/I) | NR | 30.3 | NR | NR | NR | 45.4 | 48.0 (1.7-52) | NR | 63 (<30) | 3.9 (1-11) | NR | 16.29 | NR | 9.95 IU/L | 3.04 IU/L | increased | NR | NR | increased | 31.4 IU/L | NR |
Estradiol | NA | NR | NA | NR | NA | NR | 7.04 (10-388) pg/ml | NA | 91 (>180) pmol/l | NA | NR | NR | NA | <10 pg/mL | <10 pg/mL | decreased | NR | NR | decreased | 213 pmol/ L | NR |
Neurological features | No | No | No | No | No | No | No | No | No | No | No | No | No | Developmental delay; behavioural problems; ataxic gait | Learning difficulties | Cerebellar ataxia; spasticity; swallowing difficulties | Hypotonia at birth; autistic behaviour; hyperactivity; aggression; atypical seizures; extrapyramidal dysfunction | Hypotonia at birth; hyperkinesia; self-mutilation; temper tantrums; aggression; mild pyramidal signs with brisk reflexes but no ataxia. | Pyramidal dysfunction; axial ataxia | No | No |
Additional features | No | No | No | No | No | No | No | No | Mild facial dysmorphia, hemidystrophy | Hypopadias, mild facial dysmorphia, normal testosterone | Cleft palate | Marfanoid habitus | Marfanoid habitus | Obesity; strabismus; osteoporosis; fatty liver; scoliosis | Macrocephaly; inguinal hernia; MRI showed early-onset vascular abnormalities | MRI showed early-onset vascular abnormalities | Marfanoid habitus; tarlov cysts; degenerative changes of the vertebral column | Astigmatism; 3 café-au-lait macules |